R4L (p.Arg4Leu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R4L (p.Arg4Leu) 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.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 14-20343652-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.15
- CADD 17.50
- PolyPhen-2 0.91
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available