N39K (p.Asn39Lys) variant of NAT1 (Arylamine N-acetyltransferase 1)
N39K (p.Asn39Lys) in NAT1 (Arylamine N-acetyltransferase 1) 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 0.32 / 1. The record also includes population frequency data and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- rs1241106979
- ClinGen CA370444569
- ClinVar RCV004283027
- gnomAD rs1241106979
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.30
- CADD 22.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available