R64W (p.Arg64Trp) variant of NAT2 (Arylamine N-acetyltransferase 2)
R64W (p.Arg64Trp) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele NAT2*19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- rs1805158
- UniProt VAR 009075
- ExAC rs1805158
- TOPMed rs1805158
- Benign
- in allele NAT2*19
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.15
- CADD 20.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign (in allele NAT2*19)
- UniProt: Benign (in allele NAT2*19)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available
- Cited in: Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene. (PMID 10970160)
- Cited in: Functional genomics of C190T single nucleotide polymorphism in human N-acetyltransferase 2. (PMID 12222688)