P233S (p.Pro233Ser) variant of BTD (Biotinidase)
P233S (p.Pro233Ser) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P233S (p.Pro233Ser) variant details
- p.Pro233Ser
- rs397514383
- ClinGen CA278256
- ClinVar RCV000021961
- TOPMed rs397514383
- Conflicting interpretations
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.81
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)