E4D (p.Glu4Asp) variant of CHEK2 (O96017)
E4D (p.Glu4Asp) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- rs1213043094
- ClinGen CA411092114
- ClinVar RCV002914324
- gnomAD rs1213043094
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)