Table 1 Bi-allelic WDR63 variants identified in infertility males.
From: Bi-allelic variants in human WDR63 cause male infertility via abnormal inner dynein arms assembly
M1 | M2 | |
|---|---|---|
cDNA alteration | c.163 C > T | c.1075 C > T |
Variant allele | Homozygous | Homozygous |
Protein alteration | p.Arg55* | p.Arg359* |
Variant type | Nonsense | Nonsense |
Allele frequency in human population | ||
ExAC(all/Asian) | 3.3 × 10−05/0.8 × 10−04 | 1.3 × 10−04/0 |
gnomAD (all/Asian) | 1.3 × 10−05/0.4 × 10−04 | 2.9 × 10−04/0 |
Function prediction | ||
SIFT | Damaging | Damaging |
PolyPhen-2 | Damaging | Damaging |
Mutation Taster | Damaging | Damaging |
CADD | 37 | 35 |
