R18G (p.Arg18Gly) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
R18G (p.Arg18Gly) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- TOPMed rs1432106341
- gnomAD rs1432106341
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.66
- CADD 32.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available