A57P (p.Ala57Pro) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A57P (p.Ala57Pro) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- rs1883661724
- gnomAD 14-20345054-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0472
- REVEL 0.01
- CADD 1.78
- Population evidence available
- Structural context available
- Literature evidence available