EPOR p.Asp482=
c.1446T>C · VCV4755137
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.2%, sas)
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 -0.86 | GERP -3.7 |
| Overall | ||
| CADD | 0.449 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.2%
South Asian · 182/91,076 alleles
Filtering AF
0.176%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.167%
Overall
0.0134%
216/1,614,120 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.2% | 500 |
| Admixed American | 0.0217% | 4,616 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,251 |
| European (non-Finnish) | 0.000932% | 107,271 |
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
- EPOR
- Protein
- p.Asp482=
- Coding
- c.1446T>C
- MANE Select
- NM_000121
- Type
- single nucleotide variant
- Location
- chr19:11378065 (GRCh38)
- Gene constraint
- LOEUF 0.787 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.74 · 22 PDB
- Residue 482
- the 'disordered' region
Similar variants
- EPOR p.Asp482Asn Likely benign ★★ same residue
- EPOR p.Trp439Ter Pathogenic ★★ same type
- EPOR p.Glu292Lys Uncertain significance ★★ ⚠ same type
- EPOR p.Pro327Leu Uncertain significance ★★ ⚠ same type
- EPOR c.115+7A>G Benign/Likely benign ★★ same type
- EPOR c.-55G>A Benign ★★ same type
- EPOR c.*35G>A Benign ★★ same type
- EPOR p.Ala186= Benign/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/epor-p-asp482 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown