A4V (p.Ala4Val) variant of XRCC2 (DNA repair protein XRCC2)
A4V (p.Ala4Val) in XRCC2 (DNA repair protein XRCC2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs2098040951
- gnomAD 7-152676062-ATGGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available