G12V (p.Gly12Val) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
G12V (p.Gly12Val) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs746201116
- gnomAD 14-20343676-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.02
- CADD 12.20
- PolyPhen-2 0.03
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available