R5Q (p.Arg5Gln) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R5Q (p.Arg5Gln) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R5Q (p.Arg5Gln) variant details
- p.Arg5Gln
- rs750367087
- gnomAD 14-20343655-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.17
- CADD 22.80
- PolyPhen-2 0.12
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available