R33Q (p.Arg33Gln) variant of NAT2 (Arylamine N-acetyltransferase 2)
R33Q (p.Arg33Gln) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs138592670
- ESP rs138592670
- ExAC rs138592670
- TOPMed rs138592670
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0905
- REVEL 0.08
- CADD 5.18
- PolyPhen-2 0.01
- SIFT 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available