ERF p.Pro133=
c.399G>A · rs201132767 · VCV3047901
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0358%, eas)
Conditions
1
ERF-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 -0.99 | GERP -3.7 |
| Overall | ||
| CADD | 6.803 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0358%
East Asian · 16/44,710 alleles
Filtering AF
0.0224%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0182%
Overall
0.00657%
105/1,598,584 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0358% | 2,794 |
| South Asian | 0.0169% | 5,933 |
| Remaining individualsnot grpmax-eligible | 0.00808% | 12,370 |
| European (non-Finnish) | 0.00538% | 18,579 |
| African / African-American | 0.00535% | 18,706 |
| Admixed American | 0.00169% | 59,312 |
| Finnishnot grpmax-eligible | 0.00158% | 63,134 |
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
- ERF
- Protein
- p.Pro133=
- Coding
- c.399G>A
- MANE Select
- NM_006494
- dbSNP
- rs201132767
- Type
- single nucleotide variant
- Location
- chr19:42249713 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.46 · 2 PDB
- Residue 133
- the 'disordered' region
Disease context
ERF-related disorder
Similar variants
- ERF p.Pro133Leu Uncertain significance ★★ ⚠ same residue
- ERF p.Arg207Ter Pathogenic/Likely pathogenic ★★ same condition
- ERF p.Arg218Ter Pathogenic/Likely pathogenic ★★ same condition
- ERF p.Arg233Ter Pathogenic ★★ same condition
- ERF p.Arg86Cys Pathogenic/Likely pathogenic ★★ same condition
- ERF p.Gly53Arg Likely pathogenic ★★ same condition
- ERF p.Pro133fs Likely pathogenic ★★ same residue
- ERF p.Tyr89Cys Pathogenic ★★ same condition
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/erf-p-pro133 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown