L56M (p.Leu56Met) variant of APOA5 (Apolipoprotein A-V)
L56M (p.Leu56Met) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L56M (p.Leu56Met) variant details
- p.Leu56Met
- gnomAD 11-116791063-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available