E54* (p.Glu54Ter) variant of RELN (Reelin)
E54* (p.Glu54Ter) in RELN (Reelin) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes variant effect predictions and population frequency data.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)