N39H (p.Asn39His) variant of NAT2 (Arylamine N-acetyltransferase 2)
N39H (p.Asn39His) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N39H (p.Asn39His) variant details
- p.Asn39His
- gnomAD 8-18400118-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.37
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available