W54* (p.Trp54Ter) variant of JPH2 (Junctophilin-2)
W54* (p.Trp54Ter) 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 0.87 / 1. The record also includes population frequency data and structural context.
W54* (p.Trp54Ter) variant details
- p.Trp54Ter
- rs769659929
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60696
- ExAC rs769659929
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 39.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available