M32L (p.Met32Leu) variant of APOC3 (Apolipoprotein C-III)
M32L (p.Met32Leu) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M32L (p.Met32Leu) variant details
- p.Met32Leu
- ExAC rs775525097
- gnomAD rs775525097
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.28
- CADD 10.90
- PolyPhen-2 0.15
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available