Extended Data Fig. 2: Computational assessment of germline SAMD9/9 L and GATA2 mutations. | Nature Medicine

Extended Data Fig. 2: Computational assessment of germline SAMD9/9 L and GATA2 mutations.

From: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Extended Data Fig. 2

Rank scores of GATA2, SAMD9, and SAMD9L population variants (gnomAD) or patient-specific germline mutations (MUT) was assessed using 10 in silico algorithms: REVEL, CADD, DANN, M_CAP, FATHMM, SIFT, Polyphen2 HDIV, Polyphen2 HVAR, Mutation Taster and Mutation Assessor. The Y-axis depicts the rank scores (0, benign; 1, pathogenic). Analyzed number of gnomAD variants: GATA2 n = 217, SAMD9 n = 767, SAMD9L n = 716 and patient germline mutations from this study: GATA2 n = 19, SAMD9 n = 33, SAMD9L n = 20. (a) Box plots depicting the minimum, lower quartile, median, upper quartile and maximum of each analyzed data set, p-values are calculated by comparing the medians of each data set using Kruskal-Wallis one-way analysis of variance. The significant p-values (<0.05) are bolded. (b) Density plot showing the distribution of rank scores from gnomAD and patient missense variants across GATA2, SAMD9 and SAMD9L genes.

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