D42G (p.Asp42Gly) variant of PRKCH (Protein kinase C eta type)
D42G (p.Asp42Gly) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- gnomAD 14-61327078-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.45
- MetaSVM -0.40
- CADD 13.89
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available