R59C (p.Arg59Cys) variant of BTD (Biotinidase)
R59C (p.Arg59Cys) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BTD-related disorder; not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R59C (p.Arg59Cys) variant details
- p.Arg59Cys
- rs104893687
- ClinGen CA278016
- cosmic curated COSV57730
- ClinVar RCV000001982
- Pathogenic/Likely pathogenic
- BTD-related disorder; not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.80
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (BTD-related disorder; not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Novel mutations cause biotinidase deficiency in Turkish children. (PMID 10801053)
- Cited in: Biotinidase Deficiency. (PMID 20301497)