D46N (p.Asp46Asn) variant of NAT1 (Arylamine N-acetyltransferase 1)
D46N (p.Asp46Asn) in NAT1 (Arylamine N-acetyltransferase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- TOPMed rs1805374923
- gnomAD rs1805374923
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.08
- CADD 20.70
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available