W45C (p.Trp45Cys) variant of GJA5 (Gap junction alpha-5 protein)
W45C (p.Trp45Cys) 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 standstill 1; Atrial fibrillation, familial, 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
W45C (p.Trp45Cys) variant details
- p.Trp45Cys
- TOPMed rs1283385878
- gnomAD rs1283385878
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.40
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)