G12R (p.Gly12Arg) variant of JPH2 (Junctophilin-2)
G12R (p.Gly12Arg) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs777704623
- gnomAD rs777704623
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.40
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available