A16V (p.Ala16Val) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A16V (p.Ala16Val) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 14-20344932-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.04
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available