E8D (p.Glu8Asp) variant of CHEK2 (O96017)
E8D (p.Glu8Asp) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- rs780920036
- ClinGen CA10168084
- ClinVar RCV000213815
- ClinVar RCV000635939
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.14
- CADD 6.14
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)