I83T (p.Ile83Thr) variant of GJA5 (Gap junction alpha-5 protein)
I83T (p.Ile83Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
I83T (p.Ile83Thr) variant details
- p.Ile83Thr
- rs1553227059
- ClinGen CA342397482
- ClinVar RCV003783436
- gnomAD rs1553227059
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- MetaLR 0.98
- MetaSVM 1.06
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)