G292D (p.Gly292Asp) variant of BTD (Biotinidase)
G292D (p.Gly292Asp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G292D (p.Gly292Asp) variant details
- p.Gly292Asp
- rs377651057
- ClinGen CA278285
- cosmic curated COSV10032
- ClinVar RCV000021977
- Conflicting interpretations
- not specified; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.92
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)