I59T (p.Ile59Thr) variant of NAT2 (Arylamine N-acetyltransferase 2)
I59T (p.Ile59Thr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I59T (p.Ile59Thr) variant details
- p.Ile59Thr
- ExAC rs773371959
- gnomAD rs773371959
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.26
- CADD 24.00
- PolyPhen-2 0.69
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available