EGF p.Ala691Val
c.2072_2073inv · VCV1904325
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 5.9 | GERP 2.2, phastCons 1 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 68 kb · p 0.00042 · regional, not allelic |
Variant & gene context
- Gene
- EGF
- Protein
- p.Ala691Val
- Coding
- c.2072_2073inv
- MANE Select
- NM_001963
- Type
- Inversion
- Location
- chr4:109979990 (GRCh38)
- Gene constraint
- LOEUF 0.741 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.66 · 13 PDB
Similar variants
- EGF p.Ala691= Benign ★★ same residue
- EGF p.Ala691Thr Uncertain significance ★ ⚠ same residue
- EGF c.940+11_940+12inv 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/egf-p-ala691val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown