P43L (p.Pro43Leu) variant of PRKCH (Protein kinase C eta type)
P43L (p.Pro43Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- gnomAD 14-61322229-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.72
- MetaSVM 0.62
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available