C124* (p.Cys124Ter) variant of CYP27B1 (O15528)
C124* (p.Cys124Ter) in CYP27B1 (O15528) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
C124* (p.Cys124Ter) variant details
- p.Cys124Ter
- rs771410002
- ClinGen CA385507610
- ClinVar RCV003554035
- ExAC rs771410002
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.29
- MetaLR 0.32
- MetaSVM -0.55
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.47
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available