V62L (p.Val62Leu) variant of XPA (P23025)
V62L (p.Val62Leu) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- TOPMed rs1476014427
- gnomAD rs1476014427
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.06
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available