P233L (p.Pro233Leu) variant of BTD (Biotinidase)
P233L (p.Pro233Leu) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
P233L (p.Pro233Leu) variant details
- p.Pro233Leu
- rs397514438
- ClinGen CA278390
- ClinVar RCV003499925
- Ensembl rs397514438
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 0.77
- MetaLR 0.79
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.81
- ClinVar: Likely pathogenic (Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)