E34* (p.Glu34Ter) variant of ANKRD1 (Q15327)

Name: ANKRD1 E34* (p.Glu34Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

E34* (p.Glu34Ter) in ANKRD1 (Q15327) 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.

E34* (p.Glu34Ter) variant details

p.Glu34Ter
rs1130407
NCI-TCGA Cosmic COSV1007
Ensembl rs1130407
Variant assessed as somatic; high impact.
Stop Gained
Variant Prioritization Score for Impact Estimate 0.866
CADD 38.00
UniProt: Variant assessed as somatic; high impact.
Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
Structural context available