H43Y (p.His43Tyr) variant of NAT1 (Arylamine N-acetyltransferase 1)
H43Y (p.His43Tyr) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H43Y (p.His43Tyr) variant details
- p.His43Tyr
- cosmic curated COSV10885
- ExAC rs747595397
- TOPMed rs747595397
- gnomAD rs747595397
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available