C18S (p.Cys18Ser) variant of CHEK2 (O96017)
C18S (p.Cys18Ser) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
C18S (p.Cys18Ser) variant details
- p.Cys18Ser
- rs151218932
- ClinGen CA411091856
- NCI-TCGA Cosmic COSV6042
- cosmic curated COSV60427
- Conflicting interpretations
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.06
- MetaLR 0.52
- MetaSVM -0.48
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.23
- ClinVar: Conflicting classifications of pathogenicity (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)