I57S (p.Ile57Ser) variant of GJA5 (Gap junction alpha-5 protein)
I57S (p.Ile57Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
I57S (p.Ile57Ser) variant details
- p.Ile57Ser
- rs1553227077
- ClinGen CA342397979
- ClinVar RCV001372445
- ClinVar RCV003169916
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- MetaLR 0.77
- MetaSVM 0.34
- CADD 21.50
- PolyPhen-2 0.07
- SIFT 0.10
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)