D42K (p.Asp42Lys) variant of PRKCH (Protein kinase C eta type)
D42K (p.Asp42Lys) in PRKCH (Protein kinase C eta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D42K (p.Asp42Lys) variant details
- p.Asp42Lys
- rs1566821933
- gnomAD 14-61327046-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available