L90P (p.Leu90Pro) variant of GJA5 (Gap junction alpha-5 protein)
L90P (p.Leu90Pro) 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 0.75 / 1. The record also includes population frequency data.
L90P (p.Leu90Pro) variant details
- p.Leu90Pro
- rs2524611734
- ClinGen CA342397350
- ClinVar RCV003088406
- Uncertain significance
- Atrial standstill 1; Atrial fibrillation, familial, 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- MetaLR 0.99
- MetaSVM 1.01
- CADD 29.20
- PolyPhen-2 1.00
- 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 9e-07)