V58F (p.Val58Phe) variant of SLC19A3 (Thiamine transporter 2)
V58F (p.Val58Phe) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V58F (p.Val58Phe) variant details
- p.Val58Phe
- rs200412423
- ClinGen CA2149359
- ClinVar RCV001061337
- 1000Genomes rs200412423
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 19.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)