R79H (p.Arg79His) variant of JPH2 (Junctophilin-2)
R79H (p.Arg79His) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R79H (p.Arg79His) variant details
- p.Arg79His
- cosmic curated COSV10742
- ExAC rs767968907
- TOPMed rs767968907
- gnomAD rs767968907
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available