G36C (p.Gly36Cys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G36C (p.Gly36Cys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G36C (p.Gly36Cys) variant details
- p.Gly36Cys
- ExAC rs757753730
- TOPMed rs757753730
- gnomAD rs757753730
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.15
- ESM-1b 0.84
- AlphaMissense 0.16
- MetaLR 0.17
- MetaSVM -0.94
- CADD 19.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available