A2V (p.Ala2Val) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A2V (p.Ala2Val) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 14-20343646-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available