E19G (p.Glu19Gly) variant of JPH2 (Junctophilin-2)
E19G (p.Glu19Gly) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- gnomAD rs1248579506
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.28
- CADD 28.80
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the HGDP:MIAO population (allele frequency 0.12)
- Structural context available