I28F (p.Ile28Phe) variant of CETP (P11597)
I28F (p.Ile28Phe) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I28F (p.Ile28Phe) variant details
- p.Ile28Phe
- gnomAD 16-56962061-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available