EDA p.Tyr347=
c.1041T>C · rs2020253809 · VCV1079404
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
X-linked hypohidrotic ectodermal dysplasia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.47 | GERP -7.4, phastCons 0.092 |
| Overall | ||
| CADD | 4.169 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- EDA
- Protein
- p.Tyr347=
- Coding
- c.1041T>C
- MANE Select
- NM_001399
- dbSNP
- rs2020253809
- Type
- single nucleotide variant
- Location
- chrX:70035474 (GRCh38)
- Structure
- AlphaFold pLDDT 70.59 · 3 PDB
- Residue 347
- a β-strand; the thd domain
Disease context
X-linked hypohidrotic ectodermal dysplasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hypohidrotic ectodermal dysplasia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- EDA c.526+5G>T Likely pathogenic ★★ same condition
- EDA c.527-2A>G Pathogenic/Likely pathogenic ★★ same condition
- EDA c.706+1G>A Pathogenic/Likely pathogenic ★★ same condition
- EDA c.707-13T>G Pathogenic ★★ same condition
- EDA c.742-2A>G Pathogenic/Likely pathogenic ★★ same condition
- EDA c.924+1G>T Likely pathogenic ★★ same condition
- EDA p.Ala349Ser Likely pathogenic ★★ same condition
- EDA p.Ala349Thr 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/eda-p-tyr347 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown