M126I (p.Met126Ile) variant of APOB (Apolipoprotein B-100)
M126I (p.Met126Ile) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M126I (p.Met126Ile) variant details
- p.Met126Ile
- TOPMed rs946280035
- gnomAD rs946280035
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.23
- MetaLR 0.25
- MetaSVM -0.52
- CADD 23.60
- PolyPhen-2 0.37
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available