G71E (p.Gly71Glu) variant of JPH2 (Junctophilin-2)
G71E (p.Gly71Glu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G71E (p.Gly71Glu) variant details
- p.Gly71Glu
- TOPMed rs1456836627
- gnomAD rs1456836627
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.95
- CADD 28.20
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available