EGLN2 p.Asp221=
c.663C>T · rs150973573 · VCV1754618
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.599%, afr)
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 -5.9 | |
| Overall | ||
| CADD | 4.369 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.599%
African / African-American · 450/75,072 alleles
Filtering AF
0.554%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.536%
Overall
0.0524%
845/1,612,696 alleles · rare
exomes 527/1,460,322 · genomes 318/152,374 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.599% | 167 |
| Admixed American | 0.17% | 588 |
| Remaining individualsnot grpmax-eligible | 0.0944% | 1,059 |
| European (non-Finnish) | 0.0189% | 5,291 |
| South Asian | 0.00769% | 13,011 |
| East Asian | 0.00446% | 22,439 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,578 |
| Finnishnot grpmax-eligible | 0.0016% | 62,682 |
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
- EGLN2
- Protein
- p.Asp221=
- Coding
- c.663C>T
- MANE Select
- NM_080732
- dbSNP
- rs150973573
- Type
- single nucleotide variant
- Location
- chr19:40801235 (GRCh38)
- Gene constraint
- LOEUF 0.582 · pLI 0.67 (gnomAD)
- Structure
- AlphaFold pLDDT 69.05 · 1 PDB
Similar variants
- EGLN2 p.Asp221Glu Uncertain significance ★ ⚠ same residue
- EGLN2 p.Ala137Thr Uncertain significance ★★ ⚠ same type
- EGLN2 p.Arg236Cys Uncertain significance ★★ ⚠ same type
- EGLN2 p.Arg306Cys Uncertain significance ★★ ⚠ same type
- EGLN2 c.1100+23C>A Benign ★★ same type
- EGLN2 c.844-141G>A Benign ★★ same type
- EGLN2 c.844-199G>A Benign ★★ same type
- EGLN2 c.963+33G>C 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/egln2-p-asp221 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown