EPOR p.Ser412=
c.1236G>A · rs373647199 · VCV3047378
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00847%, nfe)
Conditions
1
EPOR-related disorder
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 -1.2 | GERP -2.6 |
| Overall | ||
| CADD | 3.204 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00847%
European (non-Finnish) · 100/1,180,020 alleles
Filtering AF
0.00708%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0066%
Overall
0.00651%
105/1,613,918 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00847% | 11,800 |
| African / African-American | 0.00534% | 18,728 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,484 |
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.Ser412=
- Coding
- c.1236G>A
- MANE Select
- NM_000121
- dbSNP
- rs373647199
- Type
- single nucleotide variant
- Location
- chr19:11378275 (GRCh38)
- Gene constraint
- LOEUF 0.787 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.74 · 22 PDB
Disease context
EPOR-related disorder
Similar variants
- EPOR p.Trp439Ter Pathogenic ★★ same condition
- 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-ser412 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown