R15P (p.Arg15Pro) variant of PRKCH (Protein kinase C eta type)
R15P (p.Arg15Pro) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- TOPMed rs1182708761
- gnomAD rs1182708761
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.42
- MetaSVM -0.15
- CADD 33.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available