D49A (p.Asp49Ala) variant of NAT1 (Arylamine N-acetyltransferase 1)
D49A (p.Asp49Ala) 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.
D49A (p.Asp49Ala) variant details
- p.Asp49Ala
- rs1397542565
- gnomAD 8-18219461-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 9.37
- Population evidence available
- Structural context available
- Literature evidence available