R148S (p.Arg148Ser) variant of CHEK2 (O96017)
R148S (p.Arg148Ser) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
R148S (p.Arg148Ser) variant details
- p.Arg148Ser
- rs1298109942
- ClinGen CA411107838
- ClinVar RCV002328343
- Ensembl rs1298109942
- Likely pathogenic
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.60
- ClinVar: Likely pathogenic (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)