N18H (p.Asn18His) variant of PARP2 (Poly [ADP-ribose] polymerase 2)
N18H (p.Asn18His) in PARP2 (Poly [ADP-ribose] polymerase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N18H (p.Asn18His) variant details
- p.Asn18His
- gnomAD 14-20344937-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.04
- CADD 13.20
- PolyPhen-2 0.35
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available