L106V (p.Leu106Val) variant of XPC (Q01831)
L106V (p.Leu106Val) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
L106V (p.Leu106Val) variant details
- p.Leu106Val
- gnomAD rs1464850195
- Missense
- Variant Prioritization Score for Impact Estimate 0.0682
- REVEL 0.06
- CADD 1.65
- PolyPhen-2 0.03
- SIFT 0.55
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- Structural context available