A21S (p.Ala21Ser) variant of ERCC5 (P28715)
A21S (p.Ala21Ser) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD 13-102846327-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available