R26S (p.Arg26Ser) variant of PRKCH (Protein kinase C eta type)
R26S (p.Arg26Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R26S (p.Arg26Ser) variant details
- p.Arg26Ser
- gnomAD 14-61322177-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.27
- MetaSVM -0.74
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available