E47* (p.Glu47Ter) variant of RAD50 (DNA repair protein RAD50)
E47* (p.Glu47Ter) in RAD50 (DNA repair protein RAD50) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- rs2479579590
- ClinGen CA2739275057
- ClinVar RCV003747299
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.99
- MetaLR 0.13
- MetaSVM -0.94
- CADD 40.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)