V78L (p.Val78Leu) variant of XPC (Q01831)
V78L (p.Val78Leu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- ExAC rs746533585
- gnomAD rs746533585
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.11
- CADD 11.20
- PolyPhen-2 0.11
- SIFT 0.20
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available