R24G (p.Arg24Gly) variant of CDK4 (Cyclin-dependent kinase 4)
R24G (p.Arg24Gly) 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 Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs11547328
- ClinGen CA385549015
- ClinVar RCV001874940
- ExAC rs11547328
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.59
- AlphaMissense 0.81
- MetaLR 0.24
- MetaSVM -0.59
- CADD 31.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Pathogenic (in CMM3)
- UniProt: Pathogenic (in CMM3)
- Population evidence available
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)