Y38F (p.Tyr38Phe) variant of SLC19A3 (Thiamine transporter 2)
Y38F (p.Tyr38Phe) 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 0.48 / 1. The record also includes structural context.
Y38F (p.Tyr38Phe) variant details
- p.Tyr38Phe
- ExAC rs766975844
- gnomAD rs766975844
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available