S24G (p.Ser24Gly) variant of CHEK2 (O96017)
S24G (p.Ser24Gly) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
S24G (p.Ser24Gly) variant details
- p.Ser24Gly
- rs2146153708
- ClinGen CA411091704
- ClinVar RCV002367338
- ClinVar RCV006629410
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.22
- MetaLR 0.48
- MetaSVM -0.38
- PolyPhen-2 0.02
- SIFT 0.15
- MutPred 0.28
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Likely benign
- UniProt: Likely benign
- 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)