T105I (p.Thr105Ile) variant of SLC19A3 (Thiamine transporter 2)
T105I (p.Thr105Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
T105I (p.Thr105Ile) variant details
- p.Thr105Ile
- TOPMed rs1695585278
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.08
- Structural context available