Y14D (p.Tyr14Asp) variant of SLC19A3 (Thiamine transporter 2)
Y14D (p.Tyr14Asp) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
Y14D (p.Tyr14Asp) variant details
- p.Tyr14Asp
- Ensembl rs1695728316
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- ESM-1b 1.00
- AlphaMissense 0.32
- Structural context available