G54S (p.Gly54Ser) variant of LCAT (P04180)
G54S (p.Gly54Ser) 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; LCAT-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- rs1461145750
- ClinGen CA396382229
- ClinVar RCV003405840
- ClinVar RCV003553898
- Likely pathogenic
- not provided; LCAT-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.89
- CADD 28.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; LCAT-related disorder)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation… (PMID 8807342)
- Cited in: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial… (PMID 11423760)