C225Y (p.Cys225Tyr) variant of BTD (Biotinidase)
C225Y (p.Cys225Tyr) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C225Y (p.Cys225Tyr) variant details
- p.Cys225Tyr
- rs397507175
- ClinGen CA278252
- ClinVar RCV000021959
- ClinVar RCV000724643
- Pathogenic/Likely pathogenic
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.92
- CADD 24.60
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)