EPO p.Arg130Leu
c.389G>T · VCV3845560
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.5573 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
0/2 damaging
REVEL, SaProt · AlphaMissense no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.5573 | ambiguous |
|---|---|---|
| REVEL | 0.253 | benign-leaning |
| SaProt | LLR -7.64 | tolerated |
| ⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.1, phastCons 1 |
| Overall | ||
| CADD | 23.1 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- EPO
- Protein
- p.Arg130Leu
- Coding
- c.389G>T
- MANE Select
- NM_003254 · reported on NM_000799
- Type
- single nucleotide variant
- Location
- chr7:100722806 (GRCh38)
- Structure
- AlphaFold pLDDT 90.09 · 13 PDB
- Residue 130
- a disulfide bond; the ntr domain; an α-helix
Similar variants
- 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
- EPO p.Lys79= 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/epo-p-arg130leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown