W78* (p.Trp78Ter) variant of GJA5 (Gap junction alpha-5 protein)
W78* (p.Trp78Ter) 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 0.82 / 1. The record also includes population frequency data.
W78* (p.Trp78Ter) variant details
- p.Trp78Ter
- NCI-TCGA Cosmic COSV9960
- cosmic curated COSV99605
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)