R7G (p.Arg7Gly) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R7G (p.Arg7Gly) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs566133010
- gnomAD 14-20343660-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- REVEL 0.02
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available