R13S (p.Arg13Ser) variant of PRKCH (Protein kinase C eta type)
R13S (p.Arg13Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- 1000Genomes rs557606070
- ExAC rs557606070
- TOPMed rs557606070
- gnomAD rs557606070
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.27
- MetaSVM -0.55
- CADD 24.70
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available