R518S (p.Arg518Ser) variant of BTD (Biotinidase)
R518S (p.Arg518Ser) 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; Inborn genetic diseases; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R518S (p.Arg518Ser) variant details
- p.Arg518Ser
- rs80338686
- ClinGen CA312375
- ClinVar RCV000409281
- ClinVar RCV000623390
- Pathogenic/Likely pathogenic
- BTD-related disorder; Inborn genetic diseases; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.94
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BTD-related disorder; Inborn genetic diseases; Biotinidase defic)
- EBI: Pathogenic (in BTD deficiency)
- UniProt: Pathogenic (in BTD deficiency)
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)