R15C (p.Arg15Cys) variant of PRKCH (Protein kinase C eta type)
R15C (p.Arg15Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- gnomAD 14-61322144-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.46
- MetaSVM -0.11
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available