H30M (p.His30Met) variant of NAT1 (Arylamine N-acetyltransferase 1)
H30M (p.His30Met) in NAT1 (Arylamine N-acetyltransferase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H30M (p.His30Met) variant details
- p.His30Met
- rs1804739573
- gnomAD 8-18216982-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 14.80
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available