C404Y (p.Cys404Tyr) variant of BTD (Biotinidase)
C404Y (p.Cys404Tyr) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C404Y (p.Cys404Tyr) variant details
- p.Cys404Tyr
- rs397514335
- ClinGen CA278316
- ClinVar RCV000022000
- ClinVar RCV000493447
- Pathogenic/Likely pathogenic
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)