D49V (p.Asp49Val) variant of NAT1 (Arylamine N-acetyltransferase 1)
D49V (p.Asp49Val) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D49V (p.Asp49Val) variant details
- p.Asp49Val
- rs1397542565
- gnomAD 8-18219461-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 9.34
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available