T46M (p.Thr46Met) variant of PRKCH (Protein kinase C eta type)
T46M (p.Thr46Met) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- gnomAD 14-61322238-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.29
- MetaSVM -0.45
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available