E22Q (p.Glu22Gln) variant of NAT1 (Arylamine N-acetyltransferase 1)
E22Q (p.Glu22Gln) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- gnomAD 8-18222111-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.07
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available