N58H (p.Asn58His) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
N58H (p.Asn58His) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N58H (p.Asn58His) variant details
- p.Asn58His
- gnomAD 14-20345057-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.03
- CADD 9.94
- PolyPhen-2 0.13
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available