H56Y (p.His56Tyr) variant of CYP51A1 (Lanosterol 14-alpha demethylase)
H56Y (p.His56Tyr) in CYP51A1 (Lanosterol 14-alpha demethylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H56Y (p.His56Tyr) variant details
- p.His56Tyr
- ExAC rs573353670
- TOPMed rs573353670
- gnomAD rs573353670
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.96
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available