Q23L (p.Gln23Leu) variant of PRKCH (Protein kinase C eta type)
Q23L (p.Gln23Leu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- gnomAD 14-61322169-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.31
- ESM-1b 0.57
- AlphaMissense 0.13
- MetaLR 0.22
- MetaSVM -0.64
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available