I451T (p.Ile451Thr) variant of LDLR (Low-density lipoprotein receptor)
I451T (p.Ile451Thr) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dyslipidemia; Familial hypercholesterolemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
I451T (p.Ile451Thr) variant details
- p.Ile451Thr
- rs879254874
- ClinGen CA10585417
- ClinVar RCV000238589
- ClinVar RCV003581622
- Pathogenic/Likely pathogenic
- Dyslipidemia; Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Dyslipidemia; Familial hypercholesterolemia; not provided)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree. (PMID 10980548)
- Cited in: The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a… (PMID 19319977)