A19D (p.Ala19Asp) variant of PRKCH (Protein kinase C eta type)
A19D (p.Ala19Asp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 14-61327036-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.50
- MetaSVM -0.13
- CADD 17.47
- Population evidence available
- Structural context available
- Literature evidence available