L12M (p.Leu12Met) variant of PRKCH (Protein kinase C eta type)
L12M (p.Leu12Met) 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.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD 14-61327029-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.04
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.33
- MetaSVM -0.77
- CADD 13.79
- Population evidence available
- Structural context available
- Literature evidence available