L385P (p.Leu385Pro) variant of BTD (Biotinidase)
L385P (p.Leu385Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L385P (p.Leu385Pro) variant details
- p.Leu385Pro
- rs397514406
- ClinGen CA278302
- ClinVar RCV002651648
- ExAC rs397514406
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.91
- CADD 28.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)