F112V (p.Phe112Val) variant of SLC19A3 (Thiamine transporter 2)
F112V (p.Phe112Val) 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 0.53 / 1. The record also includes published literature and structural context.
F112V (p.Phe112Val) variant details
- p.Phe112Val
- rs1451259233
- ClinGen CA350877435
- ClinVar RCV002913203
- gnomAD rs1451259233
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.35
- MetaSVM -0.57
- PolyPhen-2 0.04
- SIFT 0.05
- 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)