R72S (p.Arg72Ser) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R72S (p.Arg72Ser) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R72S (p.Arg72Ser) variant details
- p.Arg72Ser
- gnomAD 14-20345101-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 5.04
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available