R33Q (p.Arg33Gln) variant of NAT1 (Arylamine N-acetyltransferase 1)
R33Q (p.Arg33Gln) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- ExAC rs111848753
- TOPMed rs111848753
- gnomAD rs111848753
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.05
- CADD 16.70
- PolyPhen-2 0.02
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available