G23V (p.Gly23Val) variant of SLC19A3 (Thiamine transporter 2)
G23V (p.Gly23Val) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC19A3-related disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- rs121917882
- ClinGen CA253226
- cosmic curated COSV51452
- ClinVar RCV000004824
- Pathogenic/Likely pathogenic
- SLC19A3-related disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SLC19A3-related disorder; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in BTBGD)
- UniProt: Pathogenic (in BTBGD)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. (PMID 15871139)
- Cited in: Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a… (PMID 16790503)