R159W (p.Arg159Trp) variant of LCAT (P04180)
R159W (p.Arg159Trp) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R159W (p.Arg159Trp) variant details
- p.Arg159Trp
- rs28940887
- ClinGen CA116423
- ClinVar RCV000003853
- ClinVar RCV002512727
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.92
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly… (PMID 8432868)
- Cited in: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial… (PMID 11423760)