V333M (p.Val333Met) variant of LCAT (P04180)
V333M (p.Val333Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of LCAT deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V333M (p.Val333Met) variant details
- p.Val333Met
- rs776035233
- ClinGen CA8120920
- ClinVar RCV000782355
- UniProt VAR 039036
- Pathogenic
- LCAT deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.87
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (LCAT deficiency)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular… (PMID 15994445)
- Cited in: Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new… (PMID 16051254)