E18D (p.Glu18Asp) variant of PRKCH (Protein kinase C eta type)
E18D (p.Glu18Asp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E18D (p.Glu18Asp) variant details
- p.Glu18Asp
- rs572193605
- gnomAD 14-61327028-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.35
- MetaSVM -0.72
- CADD 13.26
- Population evidence available
- Structural context available
- Literature evidence available