T56M (p.Thr56Met) variant of GJA5 (Gap junction alpha-5 protein)
T56M (p.Thr56Met) 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.
T56M (p.Thr56Met) variant details
- p.Thr56Met
- NCI-TCGA Cosmic COSV5478
- cosmic curated COSV54784
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- MetaLR 0.99
- MetaSVM 0.99
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- UniProt: Uncertain significance
- Population evidence available