I13T (p.Ile13Thr) variant of SLC19A3 (Thiamine transporter 2)
I13T (p.Ile13Thr) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
I13T (p.Ile13Thr) variant details
- p.Ile13Thr
- Ensembl rs2106332731
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.31
- ESM-1b 0.42
- AlphaMissense 0.14
- Structural context available