E32K (p.Glu32Lys) variant of SLC19A3 (Thiamine transporter 2)
E32K (p.Glu32Lys) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- cosmic curated COSV99295
- TOPMed rs1695725329
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- ESM-1b 1.00
- AlphaMissense 0.74
- Structural context available