W75* (p.Trp75Ter) variant of FERMT1 (Fermitin family homolog 1)
W75* (p.Trp75Ter) in FERMT1 (Fermitin family homolog 1) 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 0.88 / 1. The record also includes population frequency data and structural context.
W75* (p.Trp75Ter) variant details
- p.Trp75Ter
- NCI-TCGA Cosmic COSV5409
- Ensembl rs1983085952
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 41.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available