I44L (p.Ile44Leu) variant of APOA5 (Apolipoprotein A-V)
I44L (p.Ile44Leu) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I44L (p.Ile44Leu) variant details
- p.Ile44Leu
- gnomAD 11-116791087-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.11
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available