V17M (p.Val17Met) variant of SLC19A3 (Thiamine transporter 2)
V17M (p.Val17Met) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- cosmic curated COSV11321
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- ESM-1b 0.17
- AlphaMissense 0.10
- Structural context available