A117V (p.Ala117Val) variant of XRCC3 (DNA repair protein XRCC3)
A117V (p.Ala117Val) in XRCC3 (DNA repair protein XRCC3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- cosmic curated COSV10072
- TOPMed rs1429588819
- gnomAD rs1429588819
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.24
- CADD 23.10
- PolyPhen-2 0.77
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available