E11* (p.Glu11Ter) variant of CDK4 (Cyclin-dependent kinase 4)
E11* (p.Glu11Ter) in CDK4 (Cyclin-dependent kinase 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- rs2140388732
- ClinGen CA385549186
- ClinVar RCV001907400
- Ensembl rs2140388732
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.44
- MetaLR 0.14
- MetaSVM -0.88
- PolyPhen-2 0.99
- SIFT 1.00
- MutPred 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)