G3E (p.Gly3Glu) variant of JPH2 (Junctophilin-2)
G3E (p.Gly3Glu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of JPH2-related disorder; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- rs746138065
- ClinGen CA9868939
- ClinVar RCV000788956
- ClinVar RCV002370061
- Uncertain significance
- JPH2-related disorder; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.35
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (JPH2-related disorder; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available