G15R (p.Gly15Arg) variant of CDK4 (Cyclin-dependent kinase 4)
G15R (p.Gly15Arg) 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 0.95 / 1. The record also includes published literature and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs1355460580
- ClinGen CA385549122
- NCI-TCGA Cosmic COSV9922
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.88
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)