G4C (p.Gly4Cys) variant of PRKCH (Protein kinase C eta type)
G4C (p.Gly4Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G4C (p.Gly4Cys) variant details
- p.Gly4Cys
- gnomAD 14-61322111-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.16
- MetaSVM -0.91
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available