Y63H (p.Tyr63His) variant of SLC19A3 (Thiamine transporter 2)
Y63H (p.Tyr63His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y63H (p.Tyr63His) variant details
- p.Tyr63His
- rs144817990
- ClinGen CA206291
- ClinVar RCV000193057
- ClinVar RCV000806997
- Uncertain significance
- Biotin-responsive basal ganglia disease; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease; not specified; not prov)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)