M32T (p.Met32Thr) variant of APOC3 (Apolipoprotein C-III)
M32T (p.Met32Thr) in APOC3 (Apolipoprotein C-III) 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 0.59 / 1. The record also includes population frequency data and structural context.
M32T (p.Met32Thr) variant details
- p.Met32Thr
- TOPMed rs1288391287
- gnomAD rs1288391287
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.58
- AlphaMissense 0.67
- MetaLR 0.67
- MetaSVM 0.15
- CADD 23.80
- PolyPhen-2 0.82
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available