R30C (p.Arg30Cys) variant of PRKCH (Protein kinase C eta type)
R30C (p.Arg30Cys) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- TOPMed rs2045635168
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- ESM-1b 1.00
- AlphaMissense 0.70
- Structural context available