R30P (p.Arg30Pro) variant of PRKCH (Protein kinase C eta type)
R30P (p.Arg30Pro) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- gnomAD 14-61322190-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.12
- MetaSVM -0.89
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available