L40L (p.Leu40Leu) variant of PRKCH (Protein kinase C eta type)
L40L (p.Leu40Leu) in PRKCH (Protein kinase C eta type) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs372517762
- gnomAD 14-61322219-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 14.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available