C20Y (p.Cys20Tyr) variant of SLC19A3 (Thiamine transporter 2)
C20Y (p.Cys20Tyr) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C20Y (p.Cys20Tyr) variant details
- p.Cys20Tyr
- rs1695727249
- ClinGen CA350878037
- ClinVar RCV001363632
- TOPMed rs1695727249
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)