LRP5 p.Pro281fs
c.840dup · rs1555077255 · VCV524029
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP 0.87, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- LRP5
- Protein
- p.Pro281fs
- Coding
- c.840dup
- MANE Select
- NM_002335
- dbSNP
- rs1555077255
- Type
- Duplication
- Location
- chr11:68363899 (GRCh38)
- Gene constraint
- LOEUF 0.482 · pLI 0.94 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.65
- Residue 281
- the 'beta-propeller 1' region
Similar variants
- LRP5 p.Pro281Ala Uncertain significance ★ ⚠ same residue
- LRP5 p.Pro281His Uncertain significance ★ ⚠ same residue
- LRP5 p.Asp891fs Pathogenic/Likely pathogenic ★★ same type
- LRP5 p.Cys913fs Pathogenic ★★ same type
- LRP5 c.2820_2827+4dup Uncertain significance ★★ same type
- LRP5 p.Arg1414_Tyr1415insValValCysGlnArg Uncertain significance ★★ same type
- LRP5 c.1412+21_1412+27dup Likely benign ★★ same type
- LRP5 c.1801+14dup Likely benign ★★ same type
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/lrp5-p-pro281fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown