E54* (p.Glu54Ter) variant of SLC19A3 (Thiamine transporter 2)
E54* (p.Glu54Ter) in SLC19A3 (Thiamine transporter 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- rs1695594361
- ClinGen CA350877807
- ClinVar RCV002852519
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 7.12
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)