N17K (p.Asn17Lys) variant of NAT2 (Arylamine N-acetyltransferase 2)
N17K (p.Asn17Lys) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from ClinVar, EBI, 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 0.08 / 1. The record also includes population frequency data and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- 1000Genomes rs201339185
- ExAC rs201339185
- TOPMed rs201339185
- gnomAD rs201339185
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.081
- REVEL 0.04
- CADD 1.57
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available