DLL4 p.Leu418=
c.1254G>A · rs1892842210 · VCV3061616
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,595,554)
Conditions
1
DLL4-related disorder
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 1.4 | GERP -5.5, phastCons 1 |
| Overall | ||
| CADD | 6.822 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,595,554). 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
- DLL4
- Protein
- p.Leu418=
- Coding
- c.1254G>A
- MANE Select
- NM_019074
- dbSNP
- rs1892842210
- Type
- single nucleotide variant
- Location
- chr15:40936241 (GRCh38)
- Gene constraint
- LOEUF 0.197 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.89 · 1 PDB
- Residue 418
- the egf-like 6 domain; a disulfide bond
Disease context
DLL4-related disorder
Similar variants
- DLL4 p.Arg191His Likely pathogenic ★ ⚠ same condition
- DLL4 p.Gln590Ter Likely pathogenic ★ same condition
- DLL4 p.Cys300Tyr Uncertain significance ★ ⚠ same condition
- DLL4 p.Tyr666Ter Likely pathogenic same condition
- DLL4 c.658+3A>G Uncertain significance same condition
- DLL4 p.Pro621Leu Uncertain significance ⚠ same condition
- DLL4 p.Glu438= Likely benign same condition
- DLL4 p.Cys390Tyr Pathogenic/Likely 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/dll4-p-leu418 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown