I3N (p.Ile3Asn) variant of NAT2 (Arylamine N-acetyltransferase 2)
I3N (p.Ile3Asn) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I3N (p.Ile3Asn) variant details
- p.Ile3Asn
- 1000Genomes rs186884477
- ExAC rs186884477
- TOPMed rs186884477
- gnomAD rs186884477
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.22
- CADD 25.60
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.001)
- Structural context available