S48R (p.Ser48Arg) variant of PRKCH (Protein kinase C eta type)
S48R (p.Ser48Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes structural context.
S48R (p.Ser48Arg) variant details
- p.Ser48Arg
- TOPMed rs923637190
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- ESM-1b 0.00
- AlphaMissense 0.72
- Structural context available