E50* (p.Glu50Ter) variant of SLC19A3 (Thiamine transporter 2)
E50* (p.Glu50Ter) in SLC19A3 (Thiamine transporter 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- rs1131691902
- ClinGen CA350877842
- ClinVar RCV000494363
- gnomAD rs1131691902
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 32.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available