S15V (p.Ser15Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
S15V (p.Ser15Val) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S15V (p.Ser15Val) variant details
- p.Ser15Val
- gnomAD 8-18222086-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available