Y4* (p.Tyr4Ter) variant of SLC19A3 (Thiamine transporter 2)
Y4* (p.Tyr4Ter) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Y4* (p.Tyr4Ter) variant details
- p.Tyr4Ter
- rs2470581058
- ClinGen CA350878136
- ClinVar RCV003503177
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)