Q49* (p.Gln49Ter) variant of GJA5 (Gap junction alpha-5 protein)
Q49* (p.Gln49Ter) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- rs387906612
- ClinGen CA128541
- ClinVar RCV000022512
- Ensembl rs387906612
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Connexin40 nonsense mutation in familial atrial fibrillation. (PMID 20818502)