C13F (p.Cys13Phe) variant of BTD (Biotinidase)
C13F (p.Cys13Phe) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of BTD-related disorder; not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C13F (p.Cys13Phe) variant details
- p.Cys13Phe
- rs141131444
- ClinGen CA2277237
- ClinVar RCV000987126
- ClinVar RCV000998006
- Conflicting interpretations
- BTD-related disorder; not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.34
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (BTD-related disorder; not provided; Biotinidase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)