S48G (p.Ser48Gly) variant of SLC19A3 (Thiamine transporter 2)
S48G (p.Ser48Gly) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- Ensembl rs1574565267
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available