F52L (p.Phe52Leu) variant of CETP (P11597)
F52L (p.Phe52Leu) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- 1000Genomes rs201282006
- ExAC rs201282006
- gnomAD rs201282006
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available