W48L (p.Trp48Leu) variant of APOC2 (Apolipoprotein C-II)
W48L (p.Trp48Leu) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
W48L (p.Trp48Leu) variant details
- p.Trp48Leu
- cosmic curated COSV10586
- TOPMed rs1168257297
- gnomAD rs1168257297
- Uncertain significance
- Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.68
- CADD 24.90
- ClinVar: Uncertain significance (Familial apolipoprotein C-II deficiency)
- EBI: Variant of uncertain significance (in HLPP1B)
- UniProt: Uncertain significance (in HLPP1B)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available