R15G (p.Arg15Gly) variant of PRKCH (Protein kinase C eta type)
R15G (p.Arg15Gly) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- gnomAD 14-61322144-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.40
- MetaSVM -0.25
- CADD 26.90
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available