G21R (p.Gly21Arg) variant of PRKCH (Protein kinase C eta type)
G21R (p.Gly21Arg) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- ExAC rs755653210
- gnomAD rs755653210
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.14
- ESM-1b 0.72
- AlphaMissense 0.68
- MetaLR 0.05
- MetaSVM -1.17
- CADD 28.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available