EDARADD p.Ser82=
c.246C>T · rs766731640 · VCV741782
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00424%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -2.8 |
| Overall | ||
| CADD | 6.115 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00424%
European (non-Finnish) · 50/1,179,964 alleles
Filtering AF
0.00326%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00294%
Overall
0.00335%
54/1,613,978 alleles · very rare
exomes 51/1,461,790 · genomes 3/152,188 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00424% | 23,599 |
| African / African-American | 0.00267% | 37,457 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,478 |
| South Asian | 0.0011% | 91,086 |
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
- EDARADD
- Protein
- p.Ser82=
- Coding
- c.246C>T
- MANE Select
- NM_145861
- dbSNP
- rs766731640
- Type
- single nucleotide variant
- Location
- chr1:236468257 (GRCh38)
- Gene constraint
- LOEUF 0.991 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.81
- Residue 82
- the 'disordered' region
Similar variants
- EDARADD p.Arg66Ter Pathogenic ★★ same type
- EDARADD c.*1962C>T Uncertain significance ★★ same type
- EDARADD c.*863C>T Uncertain significance ★★ same type
- EDARADD p.Arg170Gln Uncertain significance ★★ ⚠ same type
- EDARADD p.Arg196His Uncertain significance ★★ ⚠ same type
- EDARADD p.Asp120His Uncertain significance ★★ ⚠ same type
- EDARADD p.Gln8Glu Uncertain significance ★★ ⚠ same type
- EDARADD p.Gly74Arg Uncertain significance ★★ ⚠ 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/edaradd-p-ser82 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown