A5V (p.Ala5Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
A5V (p.Ala5Val) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 8-18400017-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available