T37M (p.Thr37Met) variant of LCAT (P04180)
T37M (p.Thr37Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fish-eye disease; Norum disease; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T37M (p.Thr37Met) variant details
- p.Thr37Met
- rs971887742
- ClinGen CA283164291
- ClinVar RCV001946938
- ClinVar RCV002458885
- Conflicting interpretations
- Fish-eye disease; Norum disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.71
- CADD 25.10
- PolyPhen-2 0.85
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Fish-eye disease; Norum disease; Cardiovascular phenotype)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency… (PMID 9741700)
- Cited in: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial… (PMID 11423760)