R5* (p.Arg5Ter) variant of CDK4 (Cyclin-dependent kinase 4)
R5* (p.Arg5Ter) in CDK4 (Cyclin-dependent kinase 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- rs1595111256
- ClinGen CA385549315
- cosmic curated COSV10585
- ClinVar RCV003747078
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 38.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)