R78C (p.Arg78Cys) variant of SLC19A3 (Thiamine transporter 2)
R78C (p.Arg78Cys) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- rs1329744665
- ClinGen CA350877658
- cosmic curated COSV51451
- ClinVar RCV001359775
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 0.03
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)