R30H (p.Arg30His) variant of PRKCH (Protein kinase C eta type)
R30H (p.Arg30His) 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 and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- gnomAD rs1449901545
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.12
- MetaSVM -0.85
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available