I55V (p.Ile55Val) variant of NAT2 (Arylamine N-acetyltransferase 2)
I55V (p.Ile55Val) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- gnomAD 8-18400166-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0433
- REVEL 0.03
- CADD 0.11
- PolyPhen-2 0.01
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available