K18I (p.Lys18Ile) variant of NAT2 (Arylamine N-acetyltransferase 2)
K18I (p.Lys18Ile) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K18I (p.Lys18Ile) variant details
- p.Lys18Ile
- gnomAD 8-18400056-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.21
- CADD 18.50
- PolyPhen-2 0.34
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available