D232G (p.Asp232Gly) variant of BTD (Biotinidase)
D232G (p.Asp232Gly) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of BTD-related disorder; not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D232G (p.Asp232Gly) variant details
- p.Asp232Gly
- rs28934601
- ClinGen CA278012
- ClinVar RCV000001978
- ClinVar RCV000445043
- Pathogenic
- BTD-related disorder; not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.54
- CADD 14.80
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Pathogenic (BTD-related disorder; not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Profound biotinidase deficiency in two asymptomatic adults. (PMID 9375914)
- Cited in: Biotinidase Deficiency. (PMID 20301497)