N63S (p.Asn63Ser) variant of NAT2 (Arylamine N-acetyltransferase 2)
N63S (p.Asn63Ser) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N63S (p.Asn63Ser) variant details
- p.Asn63Ser
- ExAC rs779910396
- TOPMed rs779910396
- gnomAD rs779910396
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.11
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available