G4V (p.Gly4Val) variant of PRKCH (Protein kinase C eta type)
G4V (p.Gly4Val) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- gnomAD 14-61322112-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -1.01
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available