C404S (p.Cys404Ser) variant of BTD (Biotinidase)
C404S (p.Cys404Ser) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Biotinidase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C404S (p.Cys404Ser) variant details
- p.Cys404Ser
- rs397514335
- ClinGen CA278318
- ClinVar RCV002214276
- ClinVar RCV003475304
- Pathogenic/Likely pathogenic
- Biotinidase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- AlphaMissense 0.96
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Biotinidase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)