G57R (p.Gly57Arg) variant of LCAT (P04180)
G57R (p.Gly57Arg) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- rs2058302561
- ClinGen CA396382170
- ClinVar RCV003559928
- UniProt VAR 004254
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.92
- AlphaMissense 0.97
- MetaLR 0.15
- MetaSVM -0.96
- CADD 26.20
- PolyPhen-2 0.92
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and… (PMID 7711728)
- Cited in: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial… (PMID 11423760)