E63Q (p.Glu63Gln) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
E63Q (p.Glu63Gln) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- rs202077893
- gnomAD 14-20345072-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.03
- CADD 18.00
- PolyPhen-2 0.09
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available