H30D (p.His30Asp) variant of NAT1 (Arylamine N-acetyltransferase 1)
H30D (p.His30Asp) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H30D (p.His30Asp) variant details
- p.His30Asp
- gnomAD 8-18222135-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available