G114V (p.Gly114Val) variant of SLC19A3 (Thiamine transporter 2)
G114V (p.Gly114Val) 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.
G114V (p.Gly114Val) variant details
- p.Gly114Val
- TOPMed rs1164678779
- gnomAD rs1164678779
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.92
- Structural context available