Q81* (p.Gln81Ter) variant of GJA5 (Gap junction alpha-5 protein)
Q81* (p.Gln81Ter) in GJA5 (Gap junction alpha-5 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q81* (p.Gln81Ter) variant details
- p.Gln81Ter
- Ensembl rs1557943827
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available