E198D (p.Glu198Asp) variant of BTD (Biotinidase)
E198D (p.Glu198Asp) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E198D (p.Glu198Asp) variant details
- p.Glu198Asp
- rs397514379
- ClinGen CA278247
- ClinVar RCV003474454
- ClinVar RCV006707878
- Likely pathogenic
- not provided; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.81
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)