H30R (p.His30Arg) variant of NAT1 (Arylamine N-acetyltransferase 1)
H30R (p.His30Arg) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H30R (p.His30Arg) variant details
- p.His30Arg
- rs1156346173
- gnomAD 8-18216985-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0922
- CADD 2.27
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available