D67Y (p.Asp67Tyr) variant of GJA5 (Gap junction alpha-5 protein)
D67Y (p.Asp67Tyr) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial standstill 1; Atrial fibrillation, familial, 11. The record also includes population frequency data.
D67Y (p.Asp67Tyr) variant details
- p.Asp67Tyr
- rs150906806
- ClinGen CA342397805
- ClinVar RCV000822679
- 1000Genomes rs150906806
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available