Q46H (p.Gln46His) variant of NAT2 (Arylamine N-acetyltransferase 2)
Q46H (p.Gln46His) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q46H (p.Gln46His) variant details
- p.Gln46His
- ExAC rs779874333
- gnomAD rs779874333
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.03
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)
- Structural context available