S24R (p.Ser24Arg) variant of CHEK2 (O96017)
S24R (p.Ser24Arg) 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 0.48 / 1. The record also includes published literature and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- rs759679862
- ClinGen CA411091679
- ClinVar RCV002894177
- ClinGen CA411091682
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- AlphaMissense 0.22
- MetaLR 0.53
- MetaSVM -0.31
- PolyPhen-2 0.05
- SIFT 0.15
- MutPred 0.28
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)