L40L (p.Leu40Leu) variant of CETP (P11597)
L40L (p.Leu40Leu) in CETP (P11597) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs2056027530
- gnomAD 16-56962097-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 18.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available