G317E (p.Gly317Glu) variant of SLC19A3 (Thiamine transporter 2)
G317E (p.Gly317Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G317E (p.Gly317Glu) variant details
- p.Gly317Glu
- cosmic curated COSV51452
- Likely pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 0.93
- ClinVar: Likely pathogenic (Biotin-responsive basal ganglia disease)
- UniProt: Likely pathogenic
- Structural context available