R13D (p.Arg13Asp) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
R13D (p.Arg13Asp) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R13D (p.Arg13Asp) variant details
- p.Arg13Asp
- rs1555315933
- gnomAD 14-20343649-C-CGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available