F56L (p.Phe56Leu) variant of SLC19A3 (Thiamine transporter 2)
F56L (p.Phe56Leu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- rs769102876
- ClinGen CA2149361
- ClinVar RCV001068683
- ExAC rs769102876
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 10.50
- PolyPhen-2 0.05
- SIFT 0.50
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)