D523V (p.Asp523Val) variant of BTD (Biotinidase)
D523V (p.Asp523Val) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D523V (p.Asp523Val) variant details
- p.Asp523Val
- rs1050035768
- ClinGen CA70623352
- ClinVar RCV003230963
- ClinVar RCV003475551
- Conflicting interpretations
- not specified; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.83
- AlphaMissense 0.48
- MetaLR 0.86
- MetaSVM 0.85
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)