F112S (p.Phe112Ser) variant of SLC19A3 (Thiamine transporter 2)
F112S (p.Phe112Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F112S (p.Phe112Ser) variant details
- p.Phe112Ser
- rs200971390
- ClinGen CA2149330
- ClinVar RCV000938104
- ClinVar RCV001564416
- Conflicting interpretations
- not provided; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 21.50
- PolyPhen-2 0.38
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided; Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)