C403R (p.Cys403Arg) variant of BTD (Biotinidase)
C403R (p.Cys403Arg) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C403R (p.Cys403Arg) variant details
- p.Cys403Arg
- rs397514412
- ClinGen CA278312
- ClinVar RCV000021998
- ClinVar RCV002477004
- Pathogenic/Likely pathogenic
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.95
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)