Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -5.8 |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- VCL
- Protein
- p.Pro796=
- Coding
- c.2388=
- MANE Select
- NM_014000
- dbSNP
- rs767809
- Type
- single nucleotide variant
- Location
- chr10:74105307 (GRCh38)
- Gene constraint
- LOEUF 0.461 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 86.69 · 37 PDB
- Residue 796
- the 'n-terminal globular head' region; an α-helix
Similar variants
- VCL p.Pro796Ala Uncertain significance ★★ ⚠ same residue
- VCL p.Pro796Leu Uncertain significance ★★ ⚠ same residue
- VCL p.Pro796Thr Uncertain significance ★★ ⚠ same residue
- VCL p.Pro796fs Uncertain significance ★★ same residue
- VCL c.1176+4G>C Uncertain significance ★★ same type
- VCL c.1352+5G>A Uncertain significance ★★ same type
- VCL c.1543+1G>T Uncertain significance ★★ same type
- VCL c.1543+4A>G Uncertain significance ★★ 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/vcl-p-pro796 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown