N27W (p.Asn27Trp) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
N27W (p.Asn27Trp) in PARP2 (Poly [ADP-ribose] polymerase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N27W (p.Asn27Trp) variant details
- p.Asn27Trp
- rs774266943
- gnomAD 14-20344958-A-AAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available