R24C (p.Arg24Cys) variant of CDK4 (Cyclin-dependent kinase 4)
R24C (p.Arg24Cys) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial melanoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- rs11547328
- Civic 556
- ClinGen CA126982
- NCI-TCGA Cosmic COSV5698
- Pathogenic
- Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.58
- AlphaMissense 0.81
- MetaLR 0.24
- MetaSVM -0.59
- CADD 27.90
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- EBI: Pathogenic (in CMM3)
- UniProt: Pathogenic (in CMM3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. (PMID 7652577)
- Cited in: Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. (PMID 8528263)