G114A (p.Gly114Ala) variant of SLC19A3 (Thiamine transporter 2)
G114A (p.Gly114Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G114A (p.Gly114Ala) variant details
- p.Gly114Ala
- TOPMed rs1164678779
- gnomAD rs1164678779
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.60
- ESM-1b 0.43
- AlphaMissense 0.27
- CADD 20.90
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available