G23D (p.Gly23Asp) variant of SLC19A3 (Thiamine transporter 2)
G23D (p.Gly23Asp) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BTBGD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- ExAC rs121917882
- TOPMed rs121917882
- gnomAD rs121917882
- Pathogenic
- in BTBGD
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in BTBGD)
- UniProt: Pathogenic (in BTBGD)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available