L47V (p.Leu47Val) variant of XPC (Q01831)
L47V (p.Leu47Val) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- ExAC rs757602118
- TOPMed rs757602118
- gnomAD rs757602118
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.08
- CADD 4.59
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available