W64* (p.Trp64Ter) variant of JPH2 (Junctophilin-2)
W64* (p.Trp64Ter) in JPH2 (Junctophilin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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.
W64* (p.Trp64Ter) variant details
- p.Trp64Ter
- rs754529157
- ClinGen CA9868915
- ClinVar RCV001029948
- ExAC rs754529157
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 40.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available