V437L (p.Val437Leu) variant of BTD (Biotinidase)
V437L (p.Val437Leu) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V437L (p.Val437Leu) variant details
- p.Val437Leu
- rs146600671
- ClinGen CA351608653
- ClinVar RCV000665732
- ClinVar RCV006265182
- Conflicting interpretations
- not specified; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.79
- CADD 22.60
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)