R26A (p.Arg26Ala) variant of PRKCH (Protein kinase C eta type)
R26A (p.Arg26Ala) in PRKCH (Protein kinase C eta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R26A (p.Arg26Ala) variant details
- p.Arg26Ala
- gnomAD 14-61322174-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available