F70L (p.Phe70Leu) variant of GJA5 (Gap junction alpha-5 protein)
F70L (p.Phe70Leu) 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.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- rs2524611974
- ClinGen CA342397735
- ClinVar RCV003809064
- 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