L68M (p.Leu68Met) variant of SLC19A3 (Thiamine transporter 2)
L68M (p.Leu68Met) in SLC19A3 (Thiamine transporter 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 0.61 / 1. The record also includes structural context.
L68M (p.Leu68Met) variant details
- p.Leu68Met
- TOPMed rs1431161790
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- ESM-1b 1.00
- AlphaMissense 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available