E8* (p.Glu8Ter) variant of NF1 (Neurofibromin)
E8* (p.Glu8Ter) in NF1 (Neurofibromin) 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 0.81 / 1. The record also includes population frequency data and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- cosmic curated COSV10466
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available