R5W (p.Arg5Trp) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R5W (p.Arg5Trp) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs1448690733
- gnomAD 14-20343654-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available