R7L (p.Arg7Leu) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R7L (p.Arg7Leu) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- gnomAD 14-20343661-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.04
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available