D116E (p.Asp116Glu) variant of JPH2 (Junctophilin-2)
D116E (p.Asp116Glu) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D116E (p.Asp116Glu) variant details
- p.Asp116Glu
- ExAC rs778483216
- TOPMed rs778483216
- gnomAD rs778483216
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.26
- CADD 20.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available