T87S (p.Thr87Ser) variant of GJA5 (Gap junction alpha-5 protein)
T87S (p.Thr87Ser) 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.
T87S (p.Thr87Ser) variant details
- p.Thr87Ser
- rs1557943770
- NCI-TCGA TCGA novel
- ClinGen CA342397402
- ClinVar RCV000691421
- 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