M98W (p.Met98Trp) variant of XPA (P23025)
M98W (p.Met98Trp) in XPA (P23025) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M98W (p.Met98Trp) variant details
- p.Met98Trp
- gnomAD 9-97689631-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available