D75E (p.Asp75Glu) variant of SLC19A3 (Thiamine transporter 2)
D75E (p.Asp75Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- cosmic curated COSV10457
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- ESM-1b 1.00
- AlphaMissense 0.91
- Structural context available