F8L (p.Phe8Leu) variant of PRKCH (Protein kinase C eta type)
F8L (p.Phe8Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- gnomAD rs1279626139
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.34
- ESM-1b 0.84
- AlphaMissense 1.00
- MetaLR 0.07
- MetaSVM -1.11
- CADD 25.20
- Population evidence available
- Structural context available