E4* (p.Glu4Ter) variant of MITF (O75030)
E4* (p.Glu4Ter) in MITF (O75030) 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.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available