P34L (p.Pro34Leu) variant of LCAT (P04180)
P34L (p.Pro34Leu) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fish-eye disease; Norum disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs121908051
- ClinGen CA116419
- ClinVar RCV000003847
- ClinVar RCV002504740
- Pathogenic
- Fish-eye disease; Norum disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.77
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.08
- ClinVar: Pathogenic (Fish-eye disease; Norum disease; not provided)
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish… (PMID 1571050)
- Cited in: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. (PMID 1516702)