R6G (p.Arg6Gly) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R6G (p.Arg6Gly) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs1319824725
- gnomAD 14-20343644-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 25.40
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available