R17L (p.Arg17Leu) variant of XPC (Q01831)
R17L (p.Arg17Leu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- Ensembl rs1696937922
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.03
- CADD 15.70
- PolyPhen-2 0.07
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available