M36V (p.Met36Val) variant of APOC3 (Apolipoprotein C-III)
M36V (p.Met36Val) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
M36V (p.Met36Val) variant details
- p.Met36Val
- TOPMed rs1231281528
- gnomAD rs1231281528
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.26
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available