L45L (p.Leu45Leu) variant of PRKCH (Protein kinase C eta type)
L45L (p.Leu45Leu) in PRKCH (Protein kinase C eta type) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- rs1413441004
- gnomAD 14-61327175-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 6.64
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available