G136R (p.Gly136Arg) variant of JPH2 (Junctophilin-2)
G136R (p.Gly136Arg) 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 0.79 / 1. The record also includes population frequency data and structural context.
G136R (p.Gly136Arg) variant details
- p.Gly136Arg
- ExAC rs767281714
- TOPMed rs767281714
- gnomAD rs767281714
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.84
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available