E11A (p.Glu11Ala) variant of CDK4 (Cyclin-dependent kinase 4)
E11A (p.Glu11Ala) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E11A (p.Glu11Ala) variant details
- p.Glu11Ala
- rs1595111239
- ClinGen CA385549175
- ClinVar RCV002454676
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.31
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)