E26* (p.Glu26Ter) variant of BTD (Biotinidase)
E26* (p.Glu26Ter) 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 0.47 / 1. The record also includes published literature and structural context.
E26* (p.Glu26Ter) variant details
- p.Glu26Ter
- rs397514336
- ClinGen CA278146
- ClinVar RCV003474466
- Ensembl rs397514336
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.40
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.32
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)