V65A (p.Val65Ala) variant of SLC19A3 (Thiamine transporter 2)
V65A (p.Val65Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
V65A (p.Val65Ala) variant details
- p.Val65Ala
- TOPMed rs1695591205
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available