E18* (p.Glu18Ter) variant of RAD50 (DNA repair protein RAD50)
E18* (p.Glu18Ter) 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 0.34 / 1. The record also includes published literature and structural context.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- rs1449159448
- ClinGen CA360951083
- ClinVar RCV001045434
- Ensembl rs1449159448
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.41
- MetaLR 0.06
- MetaSVM -1.22
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.31
- 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)