C60Y (p.Cys60Tyr) variant of XPC (Q01831)
C60Y (p.Cys60Tyr) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- Ensembl rs1559384551
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.17
- CADD 5.82
- PolyPhen-2 0.17
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available