D101M (p.Asp101Met) variant of XPA (P23025)
D101M (p.Asp101Met) in XPA (P23025) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D101M (p.Asp101Met) variant details
- p.Asp101Met
- gnomAD 9-97689618-TAATC-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available