L7del (p.Leu7del) variant of APOC3 (Apolipoprotein C-III)
L7del (p.Leu7del) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L7del (p.Leu7del) variant details
- rs763650454
- gnomAD 11-116830600-CCTT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 8.94
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available