P43H (p.Pro43His) variant of PRKCH (Protein kinase C eta type)
P43H (p.Pro43His) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P43H (p.Pro43His) variant details
- p.Pro43His
- gnomAD 14-61327147-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.23
- MetaSVM -0.87
- CADD 0.02
- Population evidence available
- Structural context available
- Literature evidence available