R16S (p.Arg16Ser) variant of NAT2 (Arylamine N-acetyltransferase 2)
R16S (p.Arg16Ser) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- ExAC rs745585836
- gnomAD rs745585836
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.02
- CADD 6.29
- PolyPhen-2 0.02
- SIFT 0.38
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available