H116Y (p.His116Tyr) variant of CYP27B1 (O15528)
H116Y (p.His116Tyr) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
H116Y (p.His116Tyr) variant details
- p.His116Tyr
- 1000Genomes rs758218175
- ExAC rs758218175
- TOPMed rs758218175
- gnomAD rs758218175
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- ESM-1b 1.00
- AlphaMissense 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available