A38A (p.Ala38Ala) variant of ERCC5 (P28715)
A38A (p.Ala38Ala) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs764800560
- gnomAD 13-102852143-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available