R15S (p.Arg15Ser) variant of PRKCH (Protein kinase C eta type)
R15S (p.Arg15Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R15S (p.Arg15Ser) variant details
- p.Arg15Ser
- gnomAD 14-61322144-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.37
- MetaSVM -0.31
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available