E50* (p.Glu50Ter) variant of XRCC2 (DNA repair protein XRCC2)
E50* (p.Glu50Ter) in XRCC2 (DNA repair protein XRCC2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- gnomAD 7-152649337-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.843
- CADD 37.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available