Q42* (p.Gln42Ter) variant of APOE (Apolipoprotein E)
Q42* (p.Gln42Ter) in APOE (Apolipoprotein E) 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 0.50 / 1. The record also includes population frequency data and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- NCI-TCGA Cosmic COSV5298
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available