G14S (p.Gly14Ser) variant of CHEK2 (O96017)
G14S (p.Gly14Ser) 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 0.49 / 1. The record also includes published literature and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs1601854043
- ClinGen CA411091932
- ClinVar RCV000810195
- Ensembl rs1601854043
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.11
- MetaLR 0.58
- MetaSVM -0.34
- PolyPhen-2 0.23
- SIFT 0.01
- MutPred 0.14
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)