E28* (p.Glu28Ter) variant of XRCC2 (DNA repair protein XRCC2)
E28* (p.Glu28Ter) in XRCC2 (DNA repair protein XRCC2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E28* (p.Glu28Ter) variant details
- p.Glu28Ter
- gnomAD 7-152660740-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available