P63L (p.Pro63Leu) variant of XPC (Q01831)
P63L (p.Pro63Leu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- ExAC rs762684754
- TOPMed rs762684754
- gnomAD rs762684754
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available