R182C (p.Arg182Cys) variant of LCAT (P04180)
R182C (p.Arg182Cys) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fish-eye disease; Norum disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R182C (p.Arg182Cys) variant details
- p.Arg182Cys
- rs387906300
- ClinVar RCV000003852
- ClinVar RCV005016644
- UniProt VAR 004261
- Uncertain significance
- Fish-eye disease; Norum disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.64
- CADD 16.00
- PolyPhen-2 0.35
- SIFT 0.05
- ClinVar: Uncertain significance (Fish-eye disease; Norum disease)
- EBI: Pathogenic (in dbSNP:rs387906300)
- UniProt: Pathogenic (in dbSNP:rs387906300)
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available
- Cited in: Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein… (PMID 8318557)
- Cited in: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly… (PMID 8432868)