K44E (p.Lys44Glu) variant of SLC19A3 (Thiamine transporter 2)
K44E (p.Lys44Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotin-responsive basal ganglia disease. 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.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- rs137852957
- ClinGen CA253228
- ClinVar RCV000004827
- gnomAD rs137852957
- Pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 25.10
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. (PMID 19387023)
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)