R171W (p.Arg171Trp) variant of LCAT (P04180)
R171W (p.Arg171Trp) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Norum disease; Fish-eye disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R171W (p.Arg171Trp) variant details
- p.Arg171Trp
- UniProt VAR 004259
- Pathogenic
- Norum disease; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.96
- AlphaMissense 0.61
- MetaLR 0.34
- MetaSVM -0.25
- CADD 32.00
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Norum disease; Fish-eye disease)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular… (PMID 15994445)
- Cited in: Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele. (PMID 2370048)