E77* (p.Glu77Ter) variant of ASH1L (Q9NR48)
E77* (p.Glu77Ter) in ASH1L (Q9NR48) 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.
E77* (p.Glu77Ter) variant details
- p.Glu77Ter
- NCI-TCGA Cosmic COSV6420
- cosmic curated COSV64205
- Variant assessed as somatic; high impact.
- Stop Gained
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)