D75G (p.Asp75Gly) variant of SLC19A3 (Thiamine transporter 2)
D75G (p.Asp75Gly) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
D75G (p.Asp75Gly) variant details
- p.Asp75Gly
- Ensembl rs1695589066
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.92
- Structural context available