p.Glu107 Cys108insTer variant of XPA (P23025)
p.Glu107 Cys108insTer in XPA (P23025) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu107 Cys108insTer variant details
- rs772081070
- gnomAD 9-97689600-C-CATT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.824
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available