Q46E (p.Gln46Glu) variant of NAT2 (Arylamine N-acetyltransferase 2)
Q46E (p.Gln46Glu) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q46E (p.Gln46Glu) variant details
- p.Gln46Glu
- gnomAD 8-18400139-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.08
- CADD 1.69
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available