T6N (p.Thr6Asn) variant of SLC19A3 (Thiamine transporter 2)
T6N (p.Thr6Asn) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T6N (p.Thr6Asn) variant details
- p.Thr6Asn
- rs773766196
- ClinGen CA2149419
- ClinVar RCV000817072
- ExAC rs773766196
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.25
- MetaSVM -0.84
- CADD 7.01
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)