I27L (p.Ile27Leu) variant of NAT1 (Arylamine N-acetyltransferase 1)
I27L (p.Ile27Leu) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I27L (p.Ile27Leu) variant details
- p.Ile27Leu
- gnomAD 8-18222126-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.14
- CADD 17.40
- PolyPhen-2 0.62
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available