D42E (p.Asp42Glu) variant of PRKCH (Protein kinase C eta type)
D42E (p.Asp42Glu) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- gnomAD 14-61322227-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.11
- MetaSVM -0.84
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available