E19V (p.Glu19Val) variant of JPH2 (Junctophilin-2)
E19V (p.Glu19Val) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- cosmic curated COSV60696
- gnomAD rs1248579506
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.24
- CADD 27.90
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.026)
- Structural context available