A321V (p.Ala321Val) variant of SLC19A3 (Thiamine transporter 2)
A321V (p.Ala321Val) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A321V (p.Ala321Val) variant details
- p.Ala321Val
- rs1282844765
- ClinGen CA350876082
- ClinVar RCV000656116
- TOPMed rs1282844765
- Pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)