Y520C (p.Tyr520Cys) variant of BTD (Biotinidase)
Y520C (p.Tyr520Cys) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y520C (p.Tyr520Cys) variant details
- p.Tyr520Cys
- rs397514431
- ClinGen CA278359
- ClinVar RCV000022026
- ExAC rs397514431
- Uncertain significance
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.96
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- 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)