F11L (p.Phe11Leu) variant of BTD (Biotinidase)
F11L (p.Phe11Leu) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- rs921977208
- ClinGen CA70613435
- ClinVar RCV002659648
- TOPMed rs921977208
- Uncertain significance
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.32
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Biotinidase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)