T147I (p.Thr147Ile) variant of LCAT (P04180)
T147I (p.Thr147Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T147I (p.Thr147Ile) variant details
- p.Thr147Ile
- rs121908050
- ClinGen CA116418
- ClinVar RCV000003845
- ClinVar RCV002504739
- Pathogenic
- Norum disease; Fish-eye disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.83
- CADD 24.30
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Pathogenic (Norum disease; Fish-eye disease; not provided)
- EBI: Pathogenic (in FED)
- UniProt: Pathogenic (in FED)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome.… (PMID 1737840)
- Cited in: A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT)… (PMID 2052566)