L21* (p.Leu21Ter) variant of NAT2 (Arylamine N-acetyltransferase 2)
L21* (p.Leu21Ter) in NAT2 (Arylamine N-acetyltransferase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L21* (p.Leu21Ter) variant details
- p.Leu21Ter
- ExAC rs760627448
- TOPMed rs760627448
- gnomAD rs760627448
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 36.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available