EPOR p.Val333=
c.999C>A · rs780132743 · VCV2649327
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0373%, 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 0.84 | GERP -0.4, phastCons 1 |
| Overall | ||
| CADD | 4.724 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0373%
South Asian · 34/91,092 alleles
Filtering AF
0.0274%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.024%
Overall
0.00397%
64/1,614,100 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0373% | 2,679 |
| Ashkenazi Jewishnot grpmax-eligible | 0.027% | 3,701 |
| Middle Eastern | 0.0164% | 6,084 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,811 |
| European (non-Finnish) | 0.0011% | 90,772 |
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.Val333=
- Coding
- c.999C>A
- MANE Select
- NM_000121
- dbSNP
- rs780132743
- Type
- single nucleotide variant
- Location
- chr19:11378512 (GRCh38)
- Gene constraint
- LOEUF 0.787 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.74 · 22 PDB
Similar variants
- 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
- EPOR p.Ala219= 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-val333 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown