R13M (p.Arg13Met) variant of PRKCH (Protein kinase C eta type)
R13M (p.Arg13Met) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R13M (p.Arg13Met) variant details
- p.Arg13Met
- gnomAD 14-61322139-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.37
- MetaSVM -0.30
- CADD 29.90
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available