I10T (p.Ile10Thr) variant of NAT2 (Arylamine N-acetyltransferase 2)
I10T (p.Ile10Thr) in NAT2 (Arylamine N-acetyltransferase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I10T (p.Ile10Thr) variant details
- p.Ile10Thr
- 1000Genomes rs72466456
- ESP rs72466456
- ExAC rs72466456
- TOPMed rs72466456
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.23
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available