V52E (p.Val52Glu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
V52E (p.Val52Glu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V52E (p.Val52Glu) variant details
- p.Val52Glu
- rs1209544076
- gnomAD 14-20345040-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.07
- AlphaMissense 0.59
- MetaLR 0.19
- MetaSVM -0.71
- CADD 0.39
- PolyPhen-2 0.58
- Population evidence available
- Structural context available
- Literature evidence available