N175D (p.Asn175Asp) variant of BTD (Biotinidase)
N175D (p.Asn175Asp) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BTD-related disorder; not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
N175D (p.Asn175Asp) variant details
- p.Asn175Asp
- rs397514370
- ClinGen CA278225
- ClinVar RCV000021942
- ClinVar RCV000727575
- Pathogenic/Likely pathogenic
- BTD-related disorder; not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.85
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BTD-related disorder; not provided; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)