Q46* (p.Gln46Ter) variant of NAT2 (Arylamine N-acetyltransferase 2)
Q46* (p.Gln46Ter) in NAT2 (Arylamine N-acetyltransferase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- gnomAD 8-18400139-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available