D42H (p.Asp42His) variant of PRKCH (Protein kinase C eta type)
D42H (p.Asp42His) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- gnomAD 14-61327050-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.44
- MetaSVM -0.37
- CADD 18.46
- Most common in the South Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available