R15L (p.Arg15Leu) variant of PRKCH (Protein kinase C eta type)
R15L (p.Arg15Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- TOPMed rs1182708761
- gnomAD rs1182708761
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.46
- MetaSVM -0.01
- CADD 29.60
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available