A2V (p.Ala2Val) variant of CDK4 (Cyclin-dependent kinase 4)
A2V (p.Ala2Val) 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 record also includes published literature and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs2540904377
- ClinGen CA385549363
- ClinVar RCV003306731
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- 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)