E18G (p.Glu18Gly) variant of RAD50 (DNA repair protein RAD50)
E18G (p.Glu18Gly) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- rs746681057
- ClinGen CA3404880
- ClinVar RCV000569659
- ClinVar RCV004722931
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)