ERF p.Glu41del
c.118GAG[1] · VCV3343783
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 9.1 | GERP 1.8, phastCons 1 |
Variant & gene context
- Gene
- ERF
- Protein
- p.Glu41del
- Coding
- c.118GAG[1]
- MANE Select
- NM_006494
- Type
- Microsatellite
- Location
- chr19:42250465 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.46 · 2 PDB
- Residue 41
- a DNA-binding region; an α-helix
Similar variants
- ERF p.Glu41Ter Pathogenic ★ same residue
- ERF p.Ser373del Likely benign ★★ same type
- ERF p.Ser170_Ser171del Uncertain significance ★ 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/erf-p-glu41del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown