Y60* (p.Tyr60Ter) variant of SLC37A4 (O43826)
Y60* (p.Tyr60Ter) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y60* (p.Tyr60Ter) variant details
- p.Tyr60Ter
- rs2497033470
- ClinGen CA382906340
- ClinVar RCV003617461
- ClinVar RCV005637007
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)