R6* (p.Arg6Ter) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R6* (p.Arg6Ter) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R6* (p.Arg6Ter) variant details
- p.Arg6Ter
- rs898757585
- gnomAD 14-20343657-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 36.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available