A34D (p.Ala34Asp) variant of NAT1 (Arylamine N-acetyltransferase 1)
A34D (p.Ala34Asp) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- TOPMed rs1805370130
- gnomAD rs1805370130
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.13
- CADD 22.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available