EED p.Asp338=
c.1014T>C · rs768608428 · VCV708144
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0434%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.092 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP 2.4, phastCons 1 |
| Overall | ||
| CADD | 11.07 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0434%
East Asian · 19/43,800 alleles
Filtering AF
0.0283%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0235%
Overall
0.00122%
19/1,555,674 alleles · ultra-rare
exomes 16/1,403,486 · genomes 3/152,188 · joint denominator
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
- EED
- Protein
- p.Asp338=
- Coding
- c.1014T>C
- MANE Select
- NM_003797
- dbSNP
- rs768608428
- Type
- single nucleotide variant
- Location
- chr11:86277027 (GRCh38)
- Gene constraint
- LOEUF 0.41 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 87.21 · 81 PDB
- Residue 338
- the 'interaction with ezh2' region; the 'required for interaction with the matrix protein ma of hiv-1' region; a β-strand
Similar variants
- EED p.Asn194Ser Pathogenic/Likely pathogenic ★★ same type
- EED p.Asp237Gly Likely pathogenic ★★ same type
- EED p.Ala17Val Uncertain significance ★★ ⚠ same type
- EED p.Arg4Met Uncertain significance ★★ ⚠ same type
- EED p.Lys83Ile Uncertain significance ★★ ⚠ same type
- EED c.267+20C>G Benign/Likely benign ★★ same type
- EED c.268-43G>A Benign ★★ same type
- EED c.361-19G>A Likely benign ★★ 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/eed-p-asp338 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown