E53* (p.Glu53Ter) variant of FH (P07954)
E53* (p.Glu53Ter) in FH (P07954) 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 0.94 / 1. The record also includes published literature and structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- rs863224013
- ClinGen CA16609380
- ClinVar RCV000445623
- ClinVar RCV001529890
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)