H30N (p.His30Asn) variant of NAT1 (Arylamine N-acetyltransferase 1)
H30N (p.His30Asn) 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 0.09 / 1. The record also includes population frequency data and structural context.
H30N (p.His30Asn) variant details
- p.His30Asn
- TOPMed rs867938850
- gnomAD rs867938850
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.086
- CADD 0.76
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available