R80* (p.Arg80Ter) variant of PCSK1 (Neuroendocrine convertase 1)
R80* (p.Arg80Ter) in PCSK1 (Neuroendocrine convertase 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R80* (p.Arg80Ter) variant details
- p.Arg80Ter
- rs765019354
- ClinGen CA360485240
- ClinVar RCV001290206
- ExAC rs765019354
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 37.00
- EBI: Pathogenic (in dbSNP:rs1799904)
- UniProt: Pathogenic (in dbSNP:rs1799904)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available