L44P (p.Leu44Pro) variant of APOC2 (Apolipoprotein C-II)
L44P (p.Leu44Pro) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- gnomAD 19-44948776-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.68
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available