W69* (p.Trp69Ter) variant of FERMT1 (Fermitin family homolog 1)
W69* (p.Trp69Ter) 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.
W69* (p.Trp69Ter) variant details
- p.Trp69Ter
- rs1433586125
- NCI-TCGA Cosmic COSV9945
- gnomAD rs1433586125
- 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 HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available