E34* (p.Glu34Ter) variant of PCSK1 (Neuroendocrine convertase 1)
E34* (p.Glu34Ter) in PCSK1 (Neuroendocrine convertase 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 0.86 / 1. The record also includes population frequency data and structural context.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- rs778230512
- NCI-TCGA Cosmic COSV6073
- ExAC rs778230512
- gnomAD rs778230512
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available