P59L (p.Pro59Leu) variant of GJA5 (Gap junction alpha-5 protein)
P59L (p.Pro59Leu) 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.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs2524612113
- ClinGen CA342397956
- ClinVar RCV003804393
- 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