LPL p.Val8=
c.24G>A · VCV4048226
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,610,632)
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.5 | GERP 0.44, phastCons 1 |
| Overall | ||
| CADD | 9.202 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,610,632). 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.Val8=
- Coding
- c.24G>A
- MANE Select
- NM_000237
- Type
- single nucleotide variant
- Location
- chr8:19939464 (GRCh38)
- Gene constraint
- LOEUF 1.075 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.36 · 5 PDB
Similar variants
- LPL c.1019-2A>T Pathogenic ★★ same condition
- LPL c.1139+1G>A Likely pathogenic ★★ same condition
- LPL c.1322+1G>C Pathogenic/Likely pathogenic ★★ same condition
- LPL c.249+1G>A Pathogenic ★★ same condition
- LPL p.Ala98Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- LPL p.Arg197Cys Likely pathogenic ★★ same condition
- LPL p.Asp277Asn Pathogenic/Likely pathogenic ★★ same condition
- LPL p.Gln133Ter Pathogenic/Likely pathogenic ★★ 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/lpl-p-val8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown