E47Q (p.Glu47Gln) variant of RAD50 (DNA repair protein RAD50)
E47Q (p.Glu47Gln) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- rs1750077980
- ClinGen CA360953205
- ClinVar RCV001214726
- Ensembl rs1750077980
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.99
- MetaLR 0.13
- MetaSVM -0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)