Y37* (p.Tyr37Ter) variant of BTD (Biotinidase)
Y37* (p.Tyr37Ter) in BTD (Biotinidase) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y37* (p.Tyr37Ter) variant details
- p.Tyr37Ter
- rs397514339
- ClinGen CA278148
- ClinVar RCV003474461
- Ensembl rs397514339
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)