E5* (p.Glu5Ter) variant of RAD50 (DNA repair protein RAD50)
E5* (p.Glu5Ter) in RAD50 (DNA repair protein RAD50) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- rs2479573777
- ClinGen CA2580072646
- ClinVar RCV002347192
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 40.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)