L233P (p.Leu233Pro) variant of LCAT (P04180)
L233P (p.Leu233Pro) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of LCAT deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L233P (p.Leu233Pro) variant details
- p.Leu233Pro
- rs28942087
- ClinGen CA116422
- ClinVar RCV000003851
- UniProt VAR 004262
- Pathogenic
- LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.97
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (LCAT deficiency)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- 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)