S15C (p.Ser15Cys) variant of NAT1 (Arylamine N-acetyltransferase 1)
S15C (p.Ser15Cys) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- gnomAD 8-18222091-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.03
- CADD 16.80
- PolyPhen-2 0.47
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available