Q31* (p.Gln31Ter) variant of NAT1 (Arylamine N-acetyltransferase 1)
Q31* (p.Gln31Ter) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs1235637580
- gnomAD 8-18219433-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available