E18* (p.Glu18Ter) variant of ALDOB (Fructose-bisphosphate aldolase B)
E18* (p.Glu18Ter) in ALDOB (Fructose-bisphosphate aldolase B) 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.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)