M31I (p.Met31Ile) variant of APOB (Apolipoprotein B-100)
M31I (p.Met31Ile) 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 0.25 / 1. The record also includes population frequency data and structural context.
M31I (p.Met31Ile) variant details
- p.Met31Ile
- Ensembl rs1572805923
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.92
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available