R15H (p.Arg15His) variant of PRKCH (Protein kinase C eta type)
R15H (p.Arg15His) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- gnomAD 14-61322145-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.25
- MetaSVM -0.63
- CADD 26.10
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available