L66P (p.Leu66Pro) variant of SLC19A3 (Thiamine transporter 2)
L66P (p.Leu66Pro) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
L66P (p.Leu66Pro) variant details
- p.Leu66Pro
- rs1553571813
- ClinGen CA350877726
- ClinVar RCV000656115
- Ensembl rs1553571813
- Pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.80
- MetaSVM 0.65
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)