W110* (p.Trp110Ter) variant of JPH2 (Junctophilin-2)
W110* (p.Trp110Ter) in JPH2 (Junctophilin-2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. 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.
W110* (p.Trp110Ter) variant details
- p.Trp110Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.878
- CADD 40.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available