R72G (p.Arg72Gly) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R72G (p.Arg72Gly) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- rs372717118
- gnomAD 14-20345099-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 14.90
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available