L40F (p.Leu40Phe) variant of CETP (P11597)
L40F (p.Leu40Phe) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- gnomAD 16-56963011-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available