W99S (p.Trp99Ser) variant of LCAT (P04180)
W99S (p.Trp99Ser) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FED. The record also includes published literature and structural context.
W99S (p.Trp99Ser) variant details
- p.Trp99Ser
- UniProt VAR 066862
- Pathogenic
- in FED
- Missense
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Structural context available
- Cited in: High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and… (PMID 21901787)
- Cited in: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. (PMID 1516702)