S7* (p.Ser7Ter) variant of SLC19A3 (Thiamine transporter 2)
S7* (p.Ser7Ter) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S7* (p.Ser7Ter) variant details
- p.Ser7Ter
- rs713993048
- ClinGen CA273053
- ClinVar RCV000149551
- ClinVar RCV001310776
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh… (PMID 23423671)
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)