E77* (p.Glu77Ter) variant of MRE11 (P49959)
E77* (p.Glu77Ter) in MRE11 (P49959) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E77* (p.Glu77Ter) variant details
- p.Glu77Ter
- rs779269083
- ClinGen CA351220
- ClinVar RCV000210166
- ClinVar RCV002229537
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)