R24H (p.Arg24His) variant of CDK4 (Cyclin-dependent kinase 4)
R24H (p.Arg24His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
R24H (p.Arg24His) variant details
- p.Arg24His
- rs104894340
- ClinGen CA126984
- NCI-TCGA Cosmic COSV5698
- Pathogenic
- Familial melanoma; Hereditary cancer-predisposing syndrome
- 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
- ClinVar: Pathogenic (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in CMM3)
- UniProt: Pathogenic (in CMM3)
- Structural context available
- Cited in: A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation. (PMID 15880589)
- Cited in: [Familial incidence of malignant melanoma]. (PMID 5377176)