A19E (p.Ala19Glu) variant of PRKCH (Protein kinase C eta type)
A19E (p.Ala19Glu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 14-61322157-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.25
- MetaSVM -0.33
- CADD 29.10
- Population evidence available
- Structural context available
- Literature evidence available