I51V (p.Ile51Val) variant of SLC19A3 (Thiamine transporter 2)
I51V (p.Ile51Val) 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 not provided; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- rs764398318
- ClinGen CA2149363
- ClinVar RCV000640708
- ClinVar RCV003318614
- Uncertain significance
- not provided; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 2.04
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)