EPO p.Ser18=
c.54G>A · rs73409072 · VCV716882
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.857%, 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 1.6 | GERP -1.7, phastCons 0.98 |
| Overall | ||
| CADD | 7.475 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.857%
African / African-American · 643/75,026 alleles
Filtering AF
0.802%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.78%
Overall
0.0442%
713/1,613,878 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.857% | 117 |
| Admixed American | 0.04% | 2,500 |
| Remaining individualsnot grpmax-eligible | 0.0352% | 2,841 |
| South Asian | 0.0132% | 7,590 |
| Finnishnot grpmax-eligible | 0.00313% | 31,900 |
| East Asian | 0.00223% | 44,878 |
| European (non-Finnish) | 0.000763% | 131,113 |
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
- EPO
- Protein
- p.Ser18=
- Coding
- c.54G>A
- MANE Select
- NM_003254 · reported on NM_000799
- dbSNP
- rs73409072
- Type
- single nucleotide variant
- Location
- chr7:100721598 (GRCh38)
- Structure
- AlphaFold pLDDT 90.09 · 13 PDB
Similar variants
- EPO p.Ser18Leu Likely benign ★ same residue
- EPO c.14-1G>C Uncertain significance ★★ same type
- EPO c.13+10C>T Benign/Likely benign ★★ same type
- EPO c.247-66G>A Benign ★★ same type
- EPO p.Ala151= Benign ★★ same type
- EPO p.Ala57= Likely benign ★★ same type
- EPO p.Ala87= Likely benign ★★ same type
- EPO p.Asp70Asn 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/epo-p-ser18 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown