E61K (p.Glu61Lys) variant of JPH2 (Junctophilin-2)
E61K (p.Glu61Lys) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- gnomAD rs2072845419
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.29
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available