LDLR p.Arg744Trp
c.2230_2232delinsTGG · rs2512441731 · VCV3069245
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
3
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.091 | GERP -1.9 |
| Regional constraint | o/e 1.00 | unconstrained · MANE · 42 kb · p 0.91 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- LDLR
- Protein
- p.Arg744Trp
- Coding
- c.2230_2232delinsTGG
- MANE Select
- NM_000527
- dbSNP
- rs2512441731
- Type
- Indel
- Location
- chr19:11123263 (GRCh38)
- Gene constraint
- LOEUF 1.091 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 75.81 · 36 PDB
- Residue 744
- the 'clustered o-linked oligosaccharides' region; the 'disordered' region
Similar variants
- LDLR p.Arg744Gln Uncertain significance ★★★ same residue
- LDLR p.Arg744fs Pathogenic/Likely pathogenic ★★ same residue
- LDLR p.Arg744Ter Pathogenic ★★ same residue
- LDLR p.Arg744= Benign ★★ same residue
- LDLR p.Arg744_Pro745dup Conflicting classifications of pathogenicity ★ same residue
- LDLR c.1359-31_1359-23delinsCGGCT Uncertain significance ★★★ same condition
- LDLR p.Arg257His Uncertain significance ★★★ same condition
- LDLR p.Asp224_Lys225delinsPhe Uncertain significance ★★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ldlr-p-arg744trp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown