M28I (p.Met28Ile) variant of SLC19A3 (Thiamine transporter 2)
M28I (p.Met28Ile) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- rs1296450224
- ClinGen CA350877975
- ClinVar RCV003026705
- TOPMed rs1296450224
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.45
- CADD 21.50
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)