R26H (p.Arg26His) variant of PRKCH (Protein kinase C eta type)
R26H (p.Arg26His) in PRKCH (Protein kinase C eta type) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
R26H (p.Arg26His) variant details
- p.Arg26His
- ExAC rs756874616
- TOPMed rs756874616
- gnomAD rs756874616
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.36
- MetaSVM -0.35
- CADD 24.80
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available