A5S (p.Ala5Ser) variant of NAT1 (Arylamine N-acetyltransferase 1)
A5S (p.Ala5Ser) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 8-18216945-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 8.96
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available