H30Q (p.His30Gln) variant of NAT1 (Arylamine N-acetyltransferase 1)
H30Q (p.His30Gln) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H30Q (p.His30Gln) variant details
- p.His30Gln
- rs2117386066
- gnomAD 8-18216914-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 3.75
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available
- Literature evidence available