V72I (p.Val72Ile) variant of CETP (P11597)
V72I (p.Val72Ile) in CETP (P11597) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- ExAC rs767785661
- TOPMed rs767785661
- gnomAD rs767785661
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.21
- CADD 13.70
- PolyPhen-2 0.36
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available