A19T (p.Ala19Thr) variant of PRKCH (Protein kinase C eta type)
A19T (p.Ala19Thr) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- ExAC rs755012009
- TOPMed rs755012009
- gnomAD rs755012009
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.25
- MetaSVM -0.33
- CADD 32.00
- Population evidence available
- Structural context available