A458P (p.Ala458Pro) variant of BTD (Biotinidase)
A458P (p.Ala458Pro) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Biotinidase deficiency. 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.
A458P (p.Ala458Pro) variant details
- p.Ala458Pro
- rs181396238
- ClinGen CA278340
- ClinVar RCV000022014
- ClinVar RCV000484254
- Pathogenic/Likely pathogenic
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.93
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)