H43H (p.His43His) variant of NAT2 (Arylamine N-acetyltransferase 2)
H43H (p.His43His) in NAT2 (Arylamine N-acetyltransferase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H43H (p.His43His) variant details
- p.His43His
- rs370796160
- gnomAD 8-18400132-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0815
- CADD 0.42
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available