FECH p.Phe418del
c.1249TTC[1] · VCV3723149
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 -0.43 | GERP -0.54, phastCons 0.18 |
Variant & gene context
- Gene
- FECH
- Protein
- p.Phe418del
- Coding
- c.1249TTC[1]
- MANE Select
- NM_000140
- Type
- Microsatellite
- Location
- chr18:57550730 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.37 · 25 PDB
- Residue 418
- an α-helix
Similar variants
- FECH p.Phe418Cys Uncertain significance ★ ⚠ same residue
- FECH p.Trp301fs Pathogenic ★★ same type
- FECH p.Gln354fs Pathogenic ★ same type
- FECH p.Ser254fs Pathogenic ★ same type
- FECH c.706-5_706-2del Likely 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/fech-p-phe418del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown