P63R (p.Pro63Arg) variant of XPC (Q01831)
P63R (p.Pro63Arg) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P63R (p.Pro63Arg) variant details
- p.Pro63Arg
- ExAC rs762684754
- TOPMed rs762684754
- gnomAD rs762684754
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- CADD 22.30
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available