H30L (p.His30Leu) variant of NAT1 (Arylamine N-acetyltransferase 1)
H30L (p.His30Leu) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H30L (p.His30Leu) variant details
- p.His30Leu
- TOPMed rs1455332072
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 5.04
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available