K7E (p.Lys7Glu) variant of PRKCH (Protein kinase C eta type)
K7E (p.Lys7Glu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- gnomAD 14-61322120-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.11
- ESM-1b 0.99
- AlphaMissense 0.54
- MetaLR 0.24
- MetaSVM -0.68
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available