G2C (p.Gly2Cys) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G2C (p.Gly2Cys) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- gnomAD 1-55039841-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.25
- ESM-1b 0.62
- AlphaMissense 0.16
- MetaLR 0.32
- MetaSVM -0.74
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available