Q128* (p.Gln128Ter) variant of PCSK1 (Neuroendocrine convertase 1)
Q128* (p.Gln128Ter) 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 0.77 / 1. The record also includes population frequency data and structural context.
Q128* (p.Gln128Ter) variant details
- p.Gln128Ter
- NCI-TCGA Cosmic COSV6073
- cosmic curated COSV60734
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 41.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available