V97L (p.Val97Leu) variant of XPA (P23025)
V97L (p.Val97Leu) in XPA (P23025) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
V97L (p.Val97Leu) variant details
- p.Val97Leu
- gnomAD 9-97689634-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available