Q45R (p.Gln45Arg) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
Q45R (p.Gln45Arg) 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.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- gnomAD 14-20345019-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- CADD 11.80
- PolyPhen-2 0.03
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available