Y113H (p.Tyr113His) variant of SLC19A3 (Thiamine transporter 2)
Y113H (p.Tyr113His) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SLC19A3-related disorder; Biotin-responsive basal ganglia disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y113H (p.Tyr113His) variant details
- p.Tyr113His
- rs145999922
- ClinGen CA2149329
- ClinVar RCV000408622
- ClinVar RCV001546114
- Conflicting interpretations
- SLC19A3-related disorder; Biotin-responsive basal ganglia disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (SLC19A3-related disorder; Biotin-responsive basal ganglia diseas)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)