T19R (p.Thr19Arg) variant of CDK4 (Cyclin-dependent kinase 4)
T19R (p.Thr19Arg) 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 0.37 / 1. The record also includes published literature and structural context.
T19R (p.Thr19Arg) variant details
- p.Thr19Arg
- rs2140388639
- ClinGen CA385549082
- ClinVar RCV002347550
- Ensembl rs2140388639
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.48
- MetaLR 0.15
- MetaSVM -0.89
- PolyPhen-2 0.09
- SIFT 0.17
- MutPred 0.51
- 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)