V70E (p.Val70Glu) variant of LCAT (P04180)
V70E (p.Val70Glu) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Norum disease; Fish-eye disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V70E (p.Val70Glu) variant details
- p.Val70Glu
- rs748427834
- UniProt VAR 039023
- ExAC rs748427834
- TOPMed rs748427834
- Uncertain significance
- Norum disease; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.90
- AlphaMissense 0.42
- MetaLR 0.16
- MetaSVM -0.82
- CADD 26.50
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Norum disease; Fish-eye disease)
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular… (PMID 15994445)
- Cited in: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. (PMID 1516702)