H43N (p.His43Asn) variant of NAT1 (Arylamine N-acetyltransferase 1)
H43N (p.His43Asn) 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.
H43N (p.His43Asn) variant details
- p.His43Asn
- ExAC rs747595397
- TOPMed rs747595397
- gnomAD rs747595397
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available