A47V (p.Ala47Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
A47V (p.Ala47Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- gnomAD 8-18222187-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.05
- CADD 14.60
- PolyPhen-2 0.10
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available