P43Q (p.Pro43Gln) variant of PRKCH (Protein kinase C eta type)
P43Q (p.Pro43Gln) in PRKCH (Protein kinase C eta type) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P43Q (p.Pro43Gln) variant details
- p.Pro43Gln
- gnomAD 14-61327093-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 16.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available