R5G (p.Arg5Gly) variant of CDK4 (Cyclin-dependent kinase 4)
R5G (p.Arg5Gly) 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 Hereditary cancer-predisposing syndrome; Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs1595111256
- ClinGen CA385549317
- ClinVar RCV001011395
- ClinVar RCV002551743
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.13
- CADD 24.80
- PolyPhen-2 0.39
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)