E8D (p.Glu8Asp) variant of NAT1 (Arylamine N-acetyltransferase 1)
E8D (p.Glu8Asp) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- gnomAD 8-18216920-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 5.08
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available