W78G (p.Trp78Gly) variant of GJA5 (Gap junction alpha-5 protein)
W78G (p.Trp78Gly) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 11; Atrial standstill 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
W78G (p.Trp78Gly) variant details
- p.Trp78Gly
- TOPMed rs1157264363
- gnomAD rs1157264363
- Uncertain significance
- Atrial fibrillation, familial, 11; Atrial standstill 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- MetaLR 0.99
- MetaSVM 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 11; Atrial standstill 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)