E22K (p.Glu22Lys) variant of NAT1 (Arylamine N-acetyltransferase 1)
E22K (p.Glu22Lys) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- gnomAD rs1318508898
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.12
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available