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 -4.1 | GERP -5.5 |
| Overall | ||
| CADD | 0.06 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 3.04% | 33 |
| South Asian | 1.97% | 51 |
| Remaining individualsnot grpmax-eligible | 0.655% | 153 |
| European (non-Finnish) | 0.596% | 168 |
| Middle Eastern | 0.546% | 183 |
| Admixed American | 0.471% | 212 |
| Ashkenazi Jewishnot grpmax-eligible | 0.152% | 657 |
| African / African-American | 0.108% | 925 |
| Finnishnot grpmax-eligible | 0.0646% | 1,548 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- EDAR
- Protein
- p.Asp271=
- Coding
- c.813T>C
- MANE Select
- NM_022336
- dbSNP
- rs3749098
- Type
- single nucleotide variant
- Location
- chr2:108908010 (GRCh38)
- Gene constraint
- LOEUF 0.927 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.01 · 1 PDB
- Residue 271
- the 'disordered' region
Disease context
hypohidrotic ectodermal dysplasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantautosomal recessive hypohidrotic ectodermal dysplasia
For Hypohidrotic ectodermal dysplasia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- EDAR p.Ala26Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- EDAR p.Arg25Ter Pathogenic/Likely pathogenic ★★ same condition
- EDAR p.Arg358Ter Pathogenic ★★ same condition
- EDAR p.Arg420Gln Pathogenic/Likely pathogenic ★★ same condition
- EDAR p.Arg89His Pathogenic/Likely pathogenic ★★ ⚠ same condition
- EDAR p.Arg98Trp Pathogenic/Likely pathogenic ★★ same condition
- EDAR p.Cys301Ter Pathogenic ★★ same condition
- EDAR p.Cys428Arg Pathogenic/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/edar-p-asp271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown