M1L (p.Met1Leu) variant of SLC19A3 (Thiamine transporter 2)
M1L (p.Met1Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, 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 0.64 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2470581081
- ClinGen CA350878164
- ClinVar RCV003502762
- Likely pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- ESM-1b 1.00
- AlphaMissense 0.20
- ClinVar: Likely pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)