R164C (p.Arg164Cys) variant of LCAT (P04180)
R164C (p.Arg164Cys) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LCATD. 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.
R164C (p.Arg164Cys) variant details
- p.Arg164Cys
- rs1380009545
- NCI-TCGA Cosmic COSV5045
- UniProt VAR 039028
- TOPMed rs1380009545
- Pathogenic
- in LCATD
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.93
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Population evidence available
- Structural context available
- Cited in: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular… (PMID 15994445)
- Cited in: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial… (PMID 11423760)