E187* (p.Glu187Ter) variant of PICALM (Q13492)
E187* (p.Glu187Ter) in PICALM (Q13492) 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.
E187* (p.Glu187Ter) variant details
- p.Glu187Ter
- NCI-TCGA Cosmic COSV6266
- cosmic curated COSV62669
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 42.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available