E8* (p.Glu8Ter) variant of MAX (Protein max)
E8* (p.Glu8Ter) in MAX (Protein max) 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 0.79 / 1. The record also includes published literature and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- rs752477890
- ClinGen CA7233037
- cosmic curated COSV52417
- ClinVar RCV001015116
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 0.01
- SIFT 0.07
- MutPred 0.37
- 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: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)