Y77H (p.Tyr77His) variant of GJA5 (Gap junction alpha-5 protein)
Y77H (p.Tyr77His) 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 fibrillation, familial, 11; Atrial standstill 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
Y77H (p.Tyr77His) variant details
- p.Tyr77His
- rs1663877672
- ClinGen CA342397601
- ClinVar RCV002033185
- Ensembl rs1663877672
- Uncertain significance
- Atrial fibrillation, familial, 11; Atrial standstill 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- MetaLR 0.98
- MetaSVM 1.07
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 11; Atrial standstill 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)