E33* (p.Glu33Ter) variant of CDKN2A (Tumor suppressor ARF)
E33* (p.Glu33Ter) in CDKN2A (Tumor suppressor ARF) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- rs1287464120
- ClinGen CA373086953
- ClinVar RCV000705257
- TOPMed rs1287464120
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)