R123C (p.Arg123Cys) variant of LCAT (P04180)
R123C (p.Arg123Cys) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fish-eye disease; Norum disease; LCAT deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R123C (p.Arg123Cys) variant details
- p.Arg123Cys
- rs140068549
- ClinGen CA8121100
- ClinVar RCV000779196
- ClinVar RCV002501012
- Likely pathogenic
- Fish-eye disease; Norum disease; LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.93
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Fish-eye disease; Norum disease; LCAT deficiency)
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and… (PMID 9261271)
- Cited in: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. (PMID 1516702)