T6S (p.Thr6Ser) variant of SLC19A3 (Thiamine transporter 2)
T6S (p.Thr6Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
T6S (p.Thr6Ser) variant details
- p.Thr6Ser
- rs773766196
- ClinGen CA350878126
- ClinVar RCV003002123
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.25
- MetaSVM -0.84
- PolyPhen-2 0.03
- SIFT 0.22
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)