Y418H (p.Tyr418His) variant of BTD (Biotinidase)
Y418H (p.Tyr418His) in BTD (Biotinidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Biotinidase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y418H (p.Tyr418His) variant details
- p.Tyr418His
- rs1279500513
- ClinGen CA351608527
- ClinVar RCV003497656
- ClinVar RCV005407193
- Conflicting interpretations
- not specified; Biotinidase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.93
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Biotinidase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Biotinidase Deficiency. (PMID 20301497)
- Cited in: Clinical utility gene card for: biotinidase deficiency. (PMID 22378278)