A2E (p.Ala2Glu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
A2E (p.Ala2Glu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 14-20343646-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.10
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available