S19W (p.Ser19Trp) variant of APOA5 (Apolipoprotein A-V)
S19W (p.Ser19Trp) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hypertriglyceridemia 1; Familial type 5 hyperlipoproteinemia; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S19W (p.Ser19Trp) variant details
- p.Ser19Trp
- rs3135506
- ClinGen CA116845
- cosmic curated COSV57062
- ClinVar RCV000004653
- Benign/Likely benign
- Hypertriglyceridemia 1; Familial type 5 hyperlipoproteinemia; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.22
- CADD 24.20
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Benign/Likely benign (Hypertriglyceridemia 1; Familial type 5 hyperlipoproteinemia; Ca)
- EBI: Benign (in allele APOA5*3)
- UniProt: Benign (in allele APOA5*3)
- Most common in the HGDP:PIMA population (allele frequency 0.45)
- Structural context available
- Cited in: Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. (PMID 12417524)
- Cited in: Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. (PMID 12417525)