R518L (p.Arg518Leu) variant of BTD (Biotinidase)
R518L (p.Arg518Leu) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Biotinidase deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R518L (p.Arg518Leu) variant details
- p.Arg518Leu
- rs397514429
- ClinGen CA351962560
- ClinVar RCV000506930
- ClinVar RCV001315219
- Conflicting interpretations
- Biotinidase deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Biotinidase deficiency; not specified)
- EBI: Pathogenic (in BTD deficiency)
- UniProt: Pathogenic (in BTD deficiency)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)