E19K (p.Glu19Lys) variant of JPH2 (Junctophilin-2)
E19K (p.Glu19Lys) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- TOPMed rs1280974898
- gnomAD rs1280974898
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.13
- CADD 27.90
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available