G114E (p.Gly114Glu) variant of SLC19A3 (Thiamine transporter 2)
G114E (p.Gly114Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
G114E (p.Gly114Glu) variant details
- p.Gly114Glu
- cosmic curated COSV10509
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- Structural context available