G23R (p.Gly23Arg) variant of SLC19A3 (Thiamine transporter 2)
G23R (p.Gly23Arg) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- rs1209312070
- ClinGen CA350878018
- ClinVar RCV002909524
- gnomAD rs1209312070
- Likely pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Likely pathogenic (in BTBGD)
- UniProt: Likely pathogenic (in BTBGD)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)