E106* (p.Glu106Ter) variant of CYP27B1 (O15528)
E106* (p.Glu106Ter) 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 0.34 / 1. The record also includes population frequency data and structural context.
E106* (p.Glu106Ter) variant details
- p.Glu106Ter
- rs756300813
- ClinGen CA385507965
- ClinVar RCV003700029
- ExAC rs756300813
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.13
- MetaLR 0.14
- MetaSVM -0.92
- PolyPhen-2 0.29
- SIFT 0.06
- EVE 0.24
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available