E4K (p.Glu4Lys) variant of CHEK2 (O96017)
E4K (p.Glu4Lys) 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; Hereditary cancer-predisposing syndrome; not specifie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- rs1555932959
- ClinGen CA411092129
- ClinVar RCV000566272
- ClinVar RCV001299517
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome; not specifie
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.20
- MetaLR 0.82
- MetaSVM 0.97
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.27
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)