H30Y (p.His30Tyr) variant of NAT1 (Arylamine N-acetyltransferase 1)
H30Y (p.His30Tyr) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- TOPMed rs867938850
- gnomAD rs867938850
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.18
- CADD 17.80
- PolyPhen-2 0.95
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available