G119D (p.Gly119Asp) variant of JPH2 (Junctophilin-2)
G119D (p.Gly119Asp) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G119D (p.Gly119Asp) variant details
- p.Gly119Asp
- cosmic curated COSV60697
- Ensembl rs1019928101
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available