E64* (p.Glu64Ter) variant of MYH7 (Myosin-7)
E64* (p.Glu64Ter) in MYH7 (Myosin-7) 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 0.75 / 1. The record also includes population frequency data and structural context.
E64* (p.Glu64Ter) variant details
- p.Glu64Ter
- NCI-TCGA Cosmic COSV1008
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available