I28M (p.Ile28Met) variant of CETP (P11597)
I28M (p.Ile28Met) in CETP (P11597) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- 1000Genomes rs142117489
- ESP rs142117489
- ExAC rs142117489
- TOPMed rs142117489
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.27
- CADD 9.87
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available