R33W (p.Arg33Trp) variant of NAT2 (Arylamine N-acetyltransferase 2)
R33W (p.Arg33Trp) in NAT2 (Arylamine N-acetyltransferase 2) 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 and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- ExAC rs763283305
- TOPMed rs763283305
- gnomAD rs763283305
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.16
- CADD 19.60
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available