S66L (p.Ser66Leu) variant of XPC (Q01831)
S66L (p.Ser66Leu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S66L (p.Ser66Leu) variant details
- p.Ser66Leu
- Ensembl rs1696672479
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.09
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available