S62F (p.Ser62Phe) variant of SLC19A3 (Thiamine transporter 2)
S62F (p.Ser62Phe) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S62F (p.Ser62Phe) variant details
- p.Ser62Phe
- rs1266097365
- ClinGen CA350877748
- ClinVar RCV001900944
- TOPMed rs1266097365
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)