C124W (p.Cys124Trp) variant of CYP27B1 (O15528)
C124W (p.Cys124Trp) 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 0.49 / 1. The record also includes structural context.
C124W (p.Cys124Trp) variant details
- p.Cys124Trp
- ExAC rs771410002
- TOPMed rs771410002
- gnomAD rs771410002
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- ESM-1b 0.29
- AlphaMissense 0.29
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available