G57A (p.Gly57Ala) variant of CYP27B1 (O15528)
G57A (p.Gly57Ala) in CYP27B1 (O15528) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G57A (p.Gly57Ala) variant details
- p.Gly57Ala
- ESP rs376304260
- ExAC rs376304260
- TOPMed rs376304260
- gnomAD rs376304260
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- ESM-1b 1.00
- AlphaMissense 0.29
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available