S83* (p.Ser83Ter) variant of CASK (O14936)
S83* (p.Ser83Ter) in CASK (O14936) 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 0.78 / 1. The record also includes population frequency data and structural context.
S83* (p.Ser83Ter) variant details
- p.Ser83Ter
- NCI-TCGA Cosmic COSV5937
- cosmic curated COSV59372
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available