L47V (p.Leu47Val) variant of APOC3 (Apolipoprotein C-III)
L47V (p.Leu47Val) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- TOPMed rs1941438842
- gnomAD rs1941438842
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.51
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available