ERF p.Gln43Glu
c.127C>G · VCV3776673
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely benign
0.1052 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/3 damaging
AlphaMissense, REVEL, SaProt
Computational evidence
| Protein change | ||
| AlphaMissense | 0.1052 | likely benign |
|---|---|---|
| REVEL | 0.17 | moderately benign-leaning |
| SaProt | LLR -11.04 | damaging |
| ⇒ SaProt calls this damaging; AlphaMissense and REVEL do not. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.8, phastCons 1 |
| Regional constraint | o/e 0.60 | unconstrained · MANE · 4,550 bp · p 0.0025 · regional, not allelic |
| Overall | ||
| CADD | 25.6 | 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
- ERF
- Protein
- p.Gln43Glu
- Coding
- c.127C>G
- MANE Select
- NM_006494
- Type
- single nucleotide variant
- Location
- chr19:42250461 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.46 · 2 PDB
- Residue 43
- a DNA-binding region; a turn
Similar variants
- ERF p.Arg183Ter Pathogenic ★★ same type
- ERF p.Arg207Ter Pathogenic/Likely pathogenic ★★ same type
- ERF p.Arg218Ter Pathogenic/Likely pathogenic ★★ same type
- ERF p.Arg233Ter Pathogenic ★★ same type
- ERF p.Arg86Cys Pathogenic/Likely pathogenic ★★ same type
- ERF p.Gln263Ter Pathogenic ★★ same type
- ERF p.Gly53Arg Likely pathogenic ★★ same type
- ERF p.Ser24Ter Pathogenic/Likely pathogenic ★★ 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/erf-p-gln43glu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown