L68V (p.Leu68Val) variant of SLC19A3 (Thiamine transporter 2)
L68V (p.Leu68Val) 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 0.39 / 1. The record also includes published literature and structural context.
L68V (p.Leu68Val) variant details
- p.Leu68Val
- rs1431161790
- ClinGen CA350877718
- ClinVar RCV002838485
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.65
- MetaSVM -0.20
- PolyPhen-2 0.92
- SIFT 0.01
- 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)