H43Y (p.His43Tyr) variant of NAT2 (Arylamine N-acetyltransferase 2)
H43Y (p.His43Tyr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H43Y (p.His43Tyr) variant details
- p.His43Tyr
- gnomAD 8-18400130-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.25
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available