A21A (p.Ala21Ala) variant of ERCC5 (P28715)
A21A (p.Ala21Ala) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A21A (p.Ala21Ala) variant details
- p.Ala21Ala
- rs200464030
- gnomAD 13-102846329-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 8.59
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available