W27C (p.Trp27Cys) variant of PRKCH (Protein kinase C eta type)
W27C (p.Trp27Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
W27C (p.Trp27Cys) variant details
- p.Trp27Cys
- gnomAD 14-61322182-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.27
- ESM-1b 0.26
- AlphaMissense 0.45
- MetaLR 0.03
- MetaSVM -1.09
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available