E8* (p.Glu8Ter) variant of NAT2 (Arylamine N-acetyltransferase 2)
E8* (p.Glu8Ter) in NAT2 (Arylamine N-acetyltransferase 2) 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.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- gnomAD rs1800759876
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available