D42Y (p.Asp42Tyr) variant of XRCC2 (DNA repair protein XRCC2)
D42Y (p.Asp42Tyr) in XRCC2 (DNA repair protein XRCC2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- gnomAD 7-152649361-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.47
- MetaLR 0.45
- MetaSVM -0.02
- CADD 24.20
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available