p.Arg7dup variant of PARP2 (Poly [ADP-ribose] polymerase 2)
p.Arg7dup in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg7dup variant details
- gnomAD 14-20343649-C-CGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 14.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available