EGFR p.Ala237Phe
c.709_710delinsTT · rs2535499036 · VCV2583126
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
lung adenocarcinoma
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 12 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.75 | unconstrained · MANE · 137 kb · p 6e-07 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- EGFR
- Protein
- p.Ala237Phe
- Coding
- c.709_710delinsTT
- MANE Select
- NM_005228
- dbSNP
- rs2535499036
- Type
- Indel
- Location
- chr7:55152626 (GRCh38)
- Gene constraint
- LOEUF 0.475 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.29 · 393 PDB
- Residue 237
- a β-strand; a disulfide bond; a UniProt-annotated variant site (variant egfr viii; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed)
Similar variants
- EGFR p.Ala237Thr Uncertain significance ★ ⚠ same residue
- EGFR p.Ala237= Likely benign ★ same residue
- EGFR p.His773_Val774delinsLeuMet Likely pathogenic same condition
- EGFR p.Leu747_Ser752delinsGln Likely pathogenic same condition
- EGFR p.Thr751_Ile759delinsAsn Likely pathogenic same condition
- EGFR p.Arg776Cys Uncertain significance ★★ ⚠ same condition
- EGFR p.Glu554Gly Uncertain significance ★★ ⚠ same condition
- EGFR p.Asp770delinsGluSer Likely pathogenic ★ same condition
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/egfr-p-ala237phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown