R64Q (p.Arg64Gln) variant of NAT2 (Arylamine N-acetyltransferase 2)
R64Q (p.Arg64Gln) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign; drug response in the context of Slow acetylator due to N-acetyltransferase enzyme variant; NAT2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs1801279
- ClinGen CA114455
- ClinVar RCV000000762
- ClinVar RCV003924790
- Likely benign; drug response
- Slow acetylator due to N-acetyltransferase enzyme variant; NAT2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign; drug response (Slow acetylator due to N-acetyltransferase enzyme variant; NAT2-)
- EBI: Benign (in allele NAT2*14A, allele NAT2*14B, allele NAT2*14C, allele NAT)
- UniProt: Benign (in allele NAT2*14A, allele NAT2*14B, allele NAT2*14C, allele NAT)
- Most common in the HGDP:MBUTI population (allele frequency 0.17)
- Structural context available
- Cited in: Functional characterization of human N-acetyltransferase 2 (NAT2) single nucleotide polymorphisms. (PMID 11337936)
- Cited in: Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. (PMID 16416399)