E8R (p.Glu8Arg) variant of NAT1 (Arylamine N-acetyltransferase 1)
E8R (p.Glu8Arg) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E8R (p.Glu8Arg) variant details
- p.Glu8Arg
- gnomAD 8-18216916-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 14.90
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available