LDLRAP1 R238W - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(LDLRAP1 Arg238Trp)

You are viewing an old version of this page that was saved on January 14, 2010 at 9:24am by Abraham Rosenbaum.

Edited in this revision:

Short summary

This variant was seen in a homozygous fashion (together with a homozygous frameshift yielding a termination codon at codon 219) in two male English siblings who were diagnosed with recessive familial Hypercholesterolemia at ages 7 and 9.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr1:25890247: 3.5% (374/10758) in EVS
  • T @ chr1:25762833: 1.6% (2/122) in GET-Evidence
  • Frequency shown in summary reports: 3.5% (374/10758)


Eden ER, Patel DD, Sun XM, Burden JJ, Themis M, Edwards M, Lee P, Neuwirth C, Naoumova RP, Soutar AK. Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. J Clin Invest. 2002 Dec;110(11):1695-702. PubMed PMID: 12464675; PubMed Central PMCID: PMC151635.





Other external references

  • Score: 0.961 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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