ENG p.Leu170del
c.503TCC[2] · rs1830619692 · VCV1745269
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
Cardiovascular phenotype
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 -2.9 | GERP -2.6 |
Population frequency
dbSNP / gnomAD
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
- ENG
- Protein
- p.Leu170del
- Coding
- c.503TCC[2]
- MANE Select
- NM_001114753
- dbSNP
- rs1830619692
- Type
- Microsatellite
- Location
- chr9:127826522 (GRCh38)
- Gene constraint
- LOEUF 0.374 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.84 · 3 PDB
- Residue 170
- a β-strand; a disulfide bond; the 'required for interaction with gdf2' region; the 'or2' region
Similar variants
- ENG p.Leu170= Likely benign ★ same residue
- ENG p.Leu170_Arg171insLeu Likely pathogenic ★ same residue
- ENG p.Arg153fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Arg478fs Pathogenic ★★ same condition
- ENG p.Gly214fs Pathogenic ★★ same condition
- ENG p.Pro296fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Ser449fs Pathogenic ★★ same condition
- ENG p.Thr200fs 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/eng-p-leu170del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown