W107* (p.Trp107Ter) variant of SLC37A4 (O43826)
W107* (p.Trp107Ter) in SLC37A4 (O43826) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W107* (p.Trp107Ter) variant details
- p.Trp107Ter
- rs1479515679
- ClinGen CA382904866
- ClinVar RCV003472927
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)