ERF p.Thr7=
c.21A>G · VCV3373021
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,483,230)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.48 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.55 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 21.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,483,230). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ERF
- Protein
- p.Thr7=
- Coding
- c.21A>G
- MANE Select
- NM_006494
- Type
- single nucleotide variant
- Location
- chr19:42254979 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.46 · 2 PDB
- Residue 7
- a modified residue (phosphothreonine)
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-thr7 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown