Y44C (p.Tyr44Cys) variant of PRKCH (Protein kinase C eta type)
Y44C (p.Tyr44Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y44C (p.Tyr44Cys) variant details
- p.Tyr44Cys
- gnomAD 14-61322232-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.76
- MetaSVM 0.77
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available