K22Q (p.Lys22Gln) variant of CDK4 (Cyclin-dependent kinase 4)
K22Q (p.Lys22Gln) 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 0.52 / 1. The record also includes published literature and structural context.
K22Q (p.Lys22Gln) variant details
- p.Lys22Gln
- rs1555201381
- ClinGen CA385549047
- NCI-TCGA Cosmic COSV5698
- cosmic curated COSV56983
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.80
- MetaLR 0.40
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- 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)