E320Q (p.Glu320Gln) variant of SLC19A3 (Thiamine transporter 2)
E320Q (p.Glu320Gln) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E320Q (p.Glu320Gln) variant details
- p.Glu320Gln
- rs137852958
- ClinGen CA253230
- ClinVar RCV000004828
- gnomAD rs137852958
- Pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.86
- MetaSVM 0.88
- CADD 24.60
- ClinVar: Pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. (PMID 19387023)
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)