G29S (p.Gly29Ser) variant of CDK4 (Cyclin-dependent kinase 4)
G29S (p.Gly29Ser) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- rs1955238835
- ClinGen CA385548950
- ClinVar RCV002447985
- TOPMed rs1955238835
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.57
- MetaLR 0.24
- MetaSVM -0.58
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)