T345M (p.Thr345Met) variant of LCAT (P04180)
T345M (p.Thr345Met) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Fish-eye disease; Norum disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T345M (p.Thr345Met) variant details
- p.Thr345Met
- rs28940888
- ClinGen CA116425
- ClinVar RCV000003855
- ClinVar RCV005016233
- Pathogenic/Likely pathogenic
- not provided; Fish-eye disease; Norum disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Fish-eye disease; Norum disease)
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. (PMID 12957688)
- Cited in: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly… (PMID 8432868)