E46D (p.Glu46Asp) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
E46D (p.Glu46Asp) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- rs935283796
- gnomAD 14-20345023-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.03
- AlphaMissense 0.44
- MetaLR 0.00
- MetaSVM -1.09
- CADD 0.74
- PolyPhen-2 0.05
- Population evidence available
- Structural context available
- Literature evidence available