E22A (p.Glu22Ala) variant of NAT1 (Arylamine N-acetyltransferase 1)
E22A (p.Glu22Ala) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E22A (p.Glu22Ala) variant details
- p.Glu22Ala
- Ensembl rs1805364531
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available