H465Q (p.His465Gln) variant of BTD (Biotinidase)
H465Q (p.His465Gln) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Inborn genetic diseases; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H465Q (p.His465Gln) variant details
- p.His465Gln
- rs201604102
- ClinGen CA278342
- ClinVar RCV000022015
- ClinVar RCV002477005
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.12
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases; Biotinidase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)