R78H (p.Arg78His) variant of SLC19A3 (Thiamine transporter 2)
R78H (p.Arg78His) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R78H (p.Arg78His) variant details
- p.Arg78His
- rs757743169
- ClinGen CA2149348
- ClinVar RCV002725645
- ExAC rs757743169
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)