R45S (p.Arg45Ser) variant of ERCC5 (P28715)
R45S (p.Arg45Ser) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- gnomAD 13-102852162-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available