E45* (p.Glu45Ter) variant of CDKN1C (P49918)
E45* (p.Glu45Ter) in CDKN1C (P49918) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- rs1848977184
- ClinGen CA379147654
- ClinVar RCV002867481
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.66
- MetaLR 0.54
- MetaSVM -0.28
- CADD 36.00
- PolyPhen-2 0.95
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)