D42D (p.Asp42Asp) variant of PRKCH (Protein kinase C eta type)
D42D (p.Asp42Asp) in PRKCH (Protein kinase C eta type) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs563007662
- gnomAD 14-61322227-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 12.60
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available