I92T (p.Ile92Thr) variant of SLC19A3 (Thiamine transporter 2)
I92T (p.Ile92Thr) 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; not provided. 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.
I92T (p.Ile92Thr) variant details
- p.Ile92Thr
- rs537995579
- ClinGen CA2149339
- ClinVar RCV000697435
- ClinVar RCV004777840
- Uncertain significance
- Biotin-responsive basal ganglia disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 12.20
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)