E22* (p.Glu22Ter) variant of CDKN1B (P46527)
E22* (p.Glu22Ter) in CDKN1B (P46527) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- NCI-TCGA Cosmic COSV5742
- cosmic curated COSV57429
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 40.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available