EXT2 p.Val334Met
c.999_1000inv · VCV1417290
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
exostoses, multiple, type 2
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 -6 | GERP -5.2 |
| Regional constraint | o/e 0.93 | unconstrained · MANE · 99 kb · p 0.085 · regional, not allelic |
Variant & gene context
- Gene
- EXT2
- Protein
- p.Val334Met
- Coding
- c.999_1000inv
- MANE Select
- NM_207122
- Type
- Inversion
- Location
- chr11:44126875 (GRCh38)
- Gene constraint
- LOEUF 0.775 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.59 · 6 PDB
- Residue 334
- an α-helix
Disease context
exostoses, multiple, type 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Multiple osteochondromas (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Childhood
- Prevalence
- >1 / 1000 (Specific population)
Similar variants
- EXT2 p.Val334= Likely benign ★ same residue
- EXT2 c.1079+1G>A Pathogenic ★★ same condition
- EXT2 c.1079+1G>T Pathogenic ★★ same condition
- EXT2 c.1173+1G>A Pathogenic ★★ same condition
- EXT2 c.1662+1G>C Likely pathogenic ★★ same condition
- EXT2 c.536+1G>A Pathogenic ★★ same condition
- EXT2 c.626+1G>A Pathogenic ★★ same condition
- EXT2 c.626+1G>C 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/ext2-p-val334met (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown