L20P (p.Leu20Pro) variant of BTD (Biotinidase)
L20P (p.Leu20Pro) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- rs2471439603
- ClinGen CA351602844
- ClinVar RCV003486506
- Likely pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.87
- CADD 23.90
- PolyPhen-2 0.56
- 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)