R69G (p.Arg69Gly) variant of ERCC5 (P28715)
R69G (p.Arg69Gly) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R69G (p.Arg69Gly) variant details
- p.Arg69Gly
- gnomAD 13-102852234-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available