R5* (p.Arg5Ter) variant of CDKN1B (P46527)
R5* (p.Arg5Ter) in CDKN1B (P46527) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R5* (p.Arg5Ter) variant details
- p.Arg5Ter
- rs1349668409
- ClinGen CA383967913
- cosmic curated COSV10633
- ClinVar RCV000782205
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.75
- MetaLR 0.71
- MetaSVM 0.32
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)