W94R (p.Trp94Arg) variant of SLC19A3 (Thiamine transporter 2)
W94R (p.Trp94Arg) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
W94R (p.Trp94Arg) variant details
- p.Trp94Arg
- rs1695586409
- ClinGen CA350877554
- ClinVar RCV001093254
- ClinVar RCV001873462
- Pathogenic/Likely pathogenic
- not provided; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 26.60
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Biotin-responsive basal ganglia disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)