A5V (p.Ala5Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
A5V (p.Ala5Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 8-18216922-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available