T74I (p.Thr74Ile) variant of SLC19A3 (Thiamine transporter 2)
T74I (p.Thr74Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
T74I (p.Thr74Ile) variant details
- p.Thr74Ile
- 1000Genomes rs568987417
- ExAC rs568987417
- gnomAD rs568987417
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available