R26L (p.Arg26Leu) variant of PRKCH (Protein kinase C eta type)
R26L (p.Arg26Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- ExAC rs756874616
- TOPMed rs756874616
- gnomAD rs756874616
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.28
- MetaSVM -0.63
- CADD 22.80
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available