M34I (p.Met34Ile) variant of GJA5 (Gap junction alpha-5 protein)
M34I (p.Met34Ile) 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 0.44 / 1. The record also includes population frequency data.
M34I (p.Met34Ile) variant details
- p.Met34Ile
- cosmic curated COSV54784
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- MetaLR 0.57
- MetaSVM -0.11
- CADD 14.90
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Uncertain significance (Atrial standstill 1; Atrial fibrillation, familial, 11)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)