I3T (p.Ile3Thr) variant of NAT2 (Arylamine N-acetyltransferase 2)
I3T (p.Ile3Thr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I3T (p.Ile3Thr) variant details
- p.Ile3Thr
- 1000Genomes rs186884477
- ExAC rs186884477
- TOPMed rs186884477
- gnomAD rs186884477
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.14
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available