E8K (p.Glu8Lys) variant of NAT1 (Arylamine N-acetyltransferase 1)
E8K (p.Glu8Lys) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs902682517
- gnomAD 8-18216918-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 12.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available