K70E (p.Lys70Glu) variant of MRE11 (P49959)
K70E (p.Lys70Glu) in MRE11 (P49959) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- rs1555017247
- ClinGen CA382379710
- ClinVar RCV000569700
- ClinVar RCV005000267
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.34
- CADD 24.20
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)