E18K (p.Glu18Lys) variant of RAD50 (DNA repair protein RAD50)
E18K (p.Glu18Lys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- rs1449159448
- ClinGen CA360951069
- ClinVar RCV001367309
- ClinVar RCV006258558
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- 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
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)