R13G (p.Arg13Gly) variant of PRKCH (Protein kinase C eta type)
R13G (p.Arg13Gly) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- gnomAD 14-61322138-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.28
- MetaSVM -0.47
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available