T19I (p.Thr19Ile) variant of CDK4 (Cyclin-dependent kinase 4)
T19I (p.Thr19Ile) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- rs2140388639
- ClinGen CA385549081
- cosmic curated COSV10956
- ClinVar RCV002347555
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- AlphaMissense 0.48
- MetaLR 0.15
- MetaSVM -0.89
- CADD 23.20
- PolyPhen-2 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)