R69L (p.Arg69Leu) variant of ERCC5 (P28715)
R69L (p.Arg69Leu) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R69L (p.Arg69Leu) variant details
- p.Arg69Leu
- gnomAD rs747957305
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available