E9V (p.Glu9Val) variant of XRCC2 (DNA repair protein XRCC2)
E9V (p.Glu9Val) in XRCC2 (DNA repair protein XRCC2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- gnomAD 7-152676054-TCA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available