S18L (p.Ser18Leu) variant of GJA5 (Gap junction alpha-5 protein)
S18L (p.Ser18Leu) 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 0.76 / 1. The record also includes population frequency data.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- rs782537233
- ClinGen CA1065820
- ClinVar RCV001757592
- ClinVar RCV006557690
- Uncertain significance
- Atrial fibrillation, familial, 11; Atrial standstill 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- MetaLR 0.99
- MetaSVM 0.99
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 11; Atrial standstill 1; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)