S5G (p.Ser5Gly) variant of GJA5 (Gap junction alpha-5 protein)
S5G (p.Ser5Gly) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Atrial standstill 1; Atrial fibrillation, familial, 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs144069395
- ClinGen CA1065823
- ClinVar RCV000328129
- ClinVar RCV002059323
- Conflicting interpretations
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- MetaLR 0.88
- MetaSVM 0.99
- CADD 24.10
- PolyPhen-2 0.43
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Atrial standstill 1; Atrial fibrillation, familial, 11)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)