G27C (p.Gly27Cys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G27C (p.Gly27Cys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G27C (p.Gly27Cys) variant details
- p.Gly27Cys
- gnomAD 1-55039916-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- ESM-1b 0.22
- AlphaMissense 0.16
- MetaLR 0.23
- MetaSVM -0.86
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available