V58I (p.Val58Ile) variant of SLC19A3 (Thiamine transporter 2)
V58I (p.Val58Ile) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V58I (p.Val58Ile) variant details
- p.Val58Ile
- rs200412423
- ClinGen CA2149358
- NCI-TCGA Cosmic COSV5145
- cosmic curated COSV51453
- Uncertain significance
- Biotin-responsive basal ganglia disease; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 6.15
- PolyPhen-2 0.26
- SIFT 0.16
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)