H45R (p.His45Arg) variant of BTD (Biotinidase)
H45R (p.His45Arg) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of 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.
H45R (p.His45Arg) variant details
- p.His45Arg
- rs397514341
- ClinVar RCV005198251
- Ensembl rs397514341
- Conflicting interpretations
- Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.87
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: 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)