R7W (p.Arg7Trp) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R7W (p.Arg7Trp) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- rs566133010
- gnomAD 14-20343660-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.11
- CADD 20.60
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available