R33* (p.Arg33Ter) variant of NAT1 (Arylamine N-acetyltransferase 1)
R33* (p.Arg33Ter) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R33* (p.Arg33Ter) variant details
- p.Arg33Ter
- cosmic curated COSV56985
- ExAC rs56318881
- TOPMed rs56318881
- gnomAD rs56318881
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 33.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available