EDAR p.Pro349del
c.1044_1046del · VCV3369521
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 -9.2 | GERP -3.9 |
Variant & gene context
- Gene
- EDAR
- Protein
- p.Pro349del
- Coding
- c.1044_1046del
- MANE Select
- NM_022336
- Type
- Deletion
- Location
- chr2:108897208 (GRCh38)
- Gene constraint
- LOEUF 0.927 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.01 · 1 PDB
Similar variants
- EDAR c.1024+16del Benign ★★ same type
- EDAR c.52-25_52-8del Likely pathogenic ★ same type
- EDAR p.Asp253fs Pathogenic ★ same type
- EDAR p.Glu311fs Pathogenic ★ same type
- EDAR p.Gly182fs Likely pathogenic ★ same type
- EDAR p.Gly390fs Pathogenic ★ same type
- EDAR p.Leu397_Phe398insTer Pathogenic ★ same type
- EDAR p.Leu412fs Likely pathogenic ★ 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/edar-p-pro349del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown