I28V (p.Ile28Val) variant of CETP (P11597)
I28V (p.Ile28Val) in CETP (P11597) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- ExAC rs772113814
- TOPMed rs772113814
- gnomAD rs772113814
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.12
- CADD 19.80
- PolyPhen-2 0.52
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available