R30R (p.Arg30Arg) variant of PRKCH (Protein kinase C eta type)
R30R (p.Arg30Arg) in PRKCH (Protein kinase C eta type) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R30R (p.Arg30Arg) variant details
- p.Arg30Arg
- gnomAD 14-61322191-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available