Q102* (p.Gln102Ter) variant of PCSK1 (Neuroendocrine convertase 1)
Q102* (p.Gln102Ter) in PCSK1 (Neuroendocrine convertase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q102* (p.Gln102Ter) variant details
- p.Gln102Ter
- ExAC rs746083941
- TOPMed rs746083941
- gnomAD rs746083941
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 42.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available