L195F (p.Leu195Phe) variant of BTD (Biotinidase)
L195F (p.Leu195Phe) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of BTD-related disorder; 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.
L195F (p.Leu195Phe) variant details
- p.Leu195Phe
- rs190386869
- ClinGen CA278243
- ClinVar RCV000021953
- 1000Genomes rs190386869
- Pathogenic
- BTD-related disorder; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.91
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (BTD-related disorder; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)