L12P (p.Leu12Pro) variant of PRKCH (Protein kinase C eta type)
L12P (p.Leu12Pro) 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.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- rs1447887296
- gnomAD 14-61327028-GCTGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available