G12D (p.Gly12Asp) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
G12D (p.Gly12Asp) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- gnomAD 14-20343650-G-GCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available