I48M (p.Ile48Met) variant of CETP (P11597)
I48M (p.Ile48Met) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- 1000Genomes rs202133505
- TOPMed rs202133505
- gnomAD rs202133505
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.14
- CADD 20.10
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available