K6E (p.Lys6Glu) variant of RAD50 (DNA repair protein RAD50)
K6E (p.Lys6Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K6E (p.Lys6Glu) variant details
- p.Lys6Glu
- rs1580974353
- ClinGen CA360950776
- ClinVar RCV001012791
- Ensembl rs1580974353
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)