R15Q (p.Arg15Gln) variant of ERCC5 (P28715)
R15Q (p.Arg15Gln) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- gnomAD 13-102846310-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 26.50
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available