S35C (p.Ser35Cys) variant of CHEK2 (O96017)
S35C (p.Ser35Cys) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
S35C (p.Ser35Cys) variant details
- p.Ser35Cys
- rs786203185
- ClinGen CA195738
- ClinVar RCV000166389
- ClinVar RCV000463155
- Uncertain significance
- not specified; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM 0.07
- PolyPhen-2 0.95
- SIFT 0.05
- MutPred 0.27
- ClinVar: Uncertain significance (not specified; not provided; Hereditary cancer-predisposing synd)
- 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)