FLT4 p.Val418del
c.1249GTG[1] · VCV4853086
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 7.7 | GERP 1.3, phastCons 1 |
Variant & gene context
- Gene
- FLT4
- Protein
- p.Val418del
- Coding
- c.1249GTG[1]
- MANE Select
- NM_182925
- Type
- Microsatellite
- Location
- chr5:180626115 (GRCh38)
- Gene constraint
- LOEUF 0.265 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.82 · 2 PDB
- Residue 418
- a β-strand; a UniProt-annotated variant site (in chtd7)
Similar variants
- FLT4 p.Phe1108del Pathogenic/Likely pathogenic ★★ same type
- FLT4 p.Asn1361del Uncertain significance ★ same type
- FLT4 p.Ser760del Uncertain significance ★ same type
- FLT4 c.1549-87_1549-85del Benign ★ same type
- FLT4 c.1658-98GAGG[5] Benign ★ same type
- FLT4 c.2300-42AC[10] Benign ★ same type
- FLT4 c.2300-42AC[11] Benign ★ same type
- FLT4 c.2648-128_2648-127del Benign ★ 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/flt4-p-val418del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown