LPL p.Ala50fs
c.147del · rs2540099833 · VCV2863224
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.6 | GERP 0.79, phastCons 0.99 |
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
- LPL
- Protein
- p.Ala50fs
- Coding
- c.147del
- MANE Select
- NM_000237
- dbSNP
- rs2540099833
- Type
- Deletion
- Location
- chr8:19948238 (GRCh38)
- Gene constraint
- LOEUF 1.075 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.36 · 5 PDB
- Residue 50
- the 'interaction with gpihbp1' region
Similar variants
- LPL p.Ala50Gly Uncertain significance ★★ ⚠ same residue
- LPL p.Arg32fs Pathogenic ★★ same type
- LPL p.Asn147fs Pathogenic ★★ same type
- LPL p.Asn188_Phe189insTer Pathogenic ★★ same type
- LPL p.Val230fs Pathogenic/Likely pathogenic ★★ same type
- LPL c.89-10del Benign ★★ same type
- LPL c.88+1del Likely pathogenic ★ same type
- LPL p.Ala435fs Pathogenic ★ 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/lpl-p-ala50fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown