G62V (p.Gly62Val) variant of JPH2 (Junctophilin-2)
G62V (p.Gly62Val) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G62V (p.Gly62Val) variant details
- p.Gly62Val
- TOPMed rs1361417534
- gnomAD rs1361417534
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available