Q68* (p.Gln68Ter) variant of GJA5 (Gap junction alpha-5 protein)
Q68* (p.Gln68Ter) in GJA5 (Gap junction alpha-5 protein) 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 0.81 / 1. The record also includes population frequency data.
Q68* (p.Gln68Ter) variant details
- p.Gln68Ter
- NCI-TCGA Cosmic COSV9960
- cosmic curated COSV99605
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)