H441Y (p.His441Tyr) variant of CYP27B1 (O15528)
H441Y (p.His441Tyr) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
H441Y (p.His441Tyr) variant details
- p.His441Tyr
- 1000Genomes rs573538895
- ExAC rs573538895
- TOPMed rs573538895
- gnomAD rs573538895
- Likely pathogenic
- Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- ESM-1b 1.00
- AlphaMissense 0.33
- ClinVar: Likely pathogenic (Vitamin D-dependent rickets, type 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available