W59R (p.Trp59Arg) variant of SLC19A3 (Thiamine transporter 2)
W59R (p.Trp59Arg) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
W59R (p.Trp59Arg) variant details
- p.Trp59Arg
- rs1695593561
- ClinGen CA350877775
- ClinVar RCV003107769
- ClinVar RCV005240693
- Uncertain significance
- Biotin-responsive basal ganglia disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)