M126V (p.Met126Val) variant of APOB (Apolipoprotein B-100)
M126V (p.Met126Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M126V (p.Met126Val) variant details
- p.Met126Val
- ESP rs368105761
- ExAC rs368105761
- TOPMed rs368105761
- gnomAD rs368105761
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.23
- MetaLR 0.20
- MetaSVM -0.62
- CADD 23.60
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available