A3V (p.Ala3Val) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A3V (p.Ala3Val) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 14-20343649-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.04
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available