Y12D (p.Tyr12Asp) variant of NAT1 (Arylamine N-acetyltransferase 1)
Y12D (p.Tyr12Asp) 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.
Y12D (p.Tyr12Asp) variant details
- p.Tyr12Asp
- gnomAD 8-18216954-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 13.80
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available