T47A (p.Thr47Ala) variant of SLC19A3 (Thiamine transporter 2)
T47A (p.Thr47Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- cosmic curated COSV10438
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- ESM-1b 1.00
- AlphaMissense 0.14
- Structural context available