G48V (p.Gly48Val) variant of XRCC2 (DNA repair protein XRCC2)
G48V (p.Gly48Val) in XRCC2 (DNA repair protein XRCC2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G48V (p.Gly48Val) variant details
- p.Gly48Val
- gnomAD 7-152649342-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.85
- MetaLR 0.84
- MetaSVM 0.88
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available