L51P (p.Leu51Pro) variant of BTD (Biotinidase)
L51P (p.Leu51Pro) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of BTD-related disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L51P (p.Leu51Pro) variant details
- p.Leu51Pro
- rs397514333
- ClinGen CA278161
- cosmic curated COSV10032
- ClinVar RCV000021900
- Conflicting interpretations
- BTD-related disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.43
- CADD 4.73
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (BTD-related disorder; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)