P24H (p.Pro24His) variant of PRKCH (Protein kinase C eta type)
P24H (p.Pro24His) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- gnomAD 14-61327063-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.50
- MetaSVM -0.13
- CADD 20.90
- Population evidence available
- Structural context available
- Literature evidence available