R80G (p.Arg80Gly) variant of PCSK1 (Neuroendocrine convertase 1)
R80G (p.Arg80Gly) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R80G (p.Arg80Gly) variant details
- p.Arg80Gly
- ExAC rs765019354
- TOPMed rs765019354
- gnomAD rs765019354
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.21
- MetaLR 0.12
- MetaSVM -1.00
- CADD 22.80
- PolyPhen-2 0.76
- SIFT 0.02
- EBI: Pathogenic (in dbSNP:rs1799904)
- UniProt: Pathogenic (in dbSNP:rs1799904)
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available