Y6H (p.Tyr6His) variant of NAT1 (Arylamine N-acetyltransferase 1)
Y6H (p.Tyr6His) in NAT1 (Arylamine N-acetyltransferase 1) 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.
Y6H (p.Tyr6His) variant details
- p.Tyr6His
- gnomAD 8-18222063-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.36
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available