A279P (p.Ala279Pro) variant of BTD (Biotinidase)
A279P (p.Ala279Pro) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Biotinidase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A279P (p.Ala279Pro) variant details
- p.Ala279Pro
- rs1157567876
- ClinGen CA351607446
- ClinVar RCV000508475
- ClinVar RCV000715008
- Pathogenic/Likely pathogenic
- Biotinidase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.85
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Biotinidase deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)