A5G (p.Ala5Gly) variant of NAT1 (Arylamine N-acetyltransferase 1)
A5G (p.Ala5Gly) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A5G (p.Ala5Gly) variant details
- p.Ala5Gly
- rs1365699848
- gnomAD 8-18216946-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 10.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available