N175S (p.Asn175Ser) variant of BTD (Biotinidase)
N175S (p.Asn175Ser) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N175S (p.Asn175Ser) variant details
- p.Asn175Ser
- rs397514371
- ClinGen CA278227
- ClinVar RCV002664294
- ExAC rs397514371
- Pathogenic
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.84
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)