G21* (p.Gly21Ter) variant of JPH2 (Junctophilin-2)
G21* (p.Gly21Ter) in JPH2 (Junctophilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G21* (p.Gly21Ter) variant details
- p.Gly21Ter
- gnomAD rs1268927282
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available