E46K (p.Glu46Lys) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
E46K (p.Glu46Lys) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs773793994
- gnomAD 14-20345021-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.04
- CADD 3.94
- PolyPhen-2 0.00
- SIFT 0.85
- Population evidence available
- Structural context available
- Literature evidence available