W48R (p.Trp48Arg) variant of APOC2 (Apolipoprotein C-II)
W48R (p.Trp48Arg) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of APOLIPOPROTEIN C-II (WAKAYAMA); Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
W48R (p.Trp48Arg) variant details
- p.Trp48Arg
- rs120074115
- ClinGen CA115625
- ClinVar RCV000002699
- ClinVar RCV000002700
- Pathogenic
- APOLIPOPROTEIN C-II (WAKAYAMA); Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.78
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (APOLIPOPROTEIN C-II (WAKAYAMA); Familial apolipoprotein C-II def)
- EBI: Pathogenic (in HLPP1B)
- UniProt: Pathogenic (in HLPP1B)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: A missense mutation (Trp 26-->Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII… (PMID 8323539)