E110K (p.Glu110Lys) variant of SLC19A3 (Thiamine transporter 2)
E110K (p.Glu110Lys) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
E110K (p.Glu110Lys) variant details
- p.Glu110Lys
- rs2470574690
- ClinGen CA350877452
- ClinVar RCV003440208
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- ESM-1b 1.00
- AlphaMissense 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available