D67N (p.Asp67Asn) variant of GJA5 (Gap junction alpha-5 protein)
D67N (p.Asp67Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
D67N (p.Asp67Asn) variant details
- p.Asp67Asn
- rs150906806
- ClinGen CA1065810
- cosmic curated COSV54786
- ClinVar RCV001317751
- Uncertain significance
- Atrial fibrillation, familial, 11; Atrial standstill 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- MetaLR 0.98
- MetaSVM 1.09
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 11; Atrial standstill 1; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)