A19S (p.Ala19Ser) variant of PRKCH (Protein kinase C eta type)
A19S (p.Ala19Ser) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- ExAC rs755012009
- TOPMed rs755012009
- gnomAD rs755012009
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.25
- MetaSVM -0.33
- CADD 30.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available