R24L (p.Arg24Leu) variant of CDK4 (Cyclin-dependent kinase 4)
R24L (p.Arg24Leu) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMM3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- rs104894340
- NCI-TCGA Cosmic COSV5698
- cosmic curated COSV56983
- Pathogenic
- in CMM3
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.37
- MetaLR 0.12
- MetaSVM -0.94
- PolyPhen-2 0.32
- SIFT 0.00
- MutPred 0.89
- EBI: Pathogenic (in CMM3)
- UniProt: Pathogenic (in CMM3)
- Structural context available