W27L (p.Trp27Leu) variant of PRKCH (Protein kinase C eta type)
W27L (p.Trp27Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
W27L (p.Trp27Leu) variant details
- p.Trp27Leu
- gnomAD 14-61322181-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.23
- ESM-1b 0.84
- AlphaMissense 0.39
- MetaLR 0.03
- MetaSVM -1.04
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available