A47D (p.Ala47Asp) variant of NAT2 (Arylamine N-acetyltransferase 2)
A47D (p.Ala47Asp) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A47D (p.Ala47Asp) variant details
- p.Ala47Asp
- gnomAD rs1463045225
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.08
- CADD 6.22
- PolyPhen-2 0.04
- SIFT 0.52
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available