NR2F2 p.Glu147=
c.441A>G · VCV4891445
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.75 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.60 | loss · gain 0.15 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 9 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 22.6 | PHRED · no single calibrated threshold — expert panels disagree |
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
- NR2F2
- Protein
- p.Glu147=
- Coding
- c.441A>G
- MANE Select
- NM_021005
- Type
- single nucleotide variant
- Location
- chr15:96332546 (GRCh38)
- Gene constraint
- LOEUF 0.197 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.94 · 1 PDB
- Residue 147
- a DNA-binding region; the 'interaction with zfpm2' region
Similar variants
- NR2F2 p.Ser341Tyr Pathogenic/Likely pathogenic ★★ same type
- NR2F2 p.Trp249Ter Pathogenic/Likely pathogenic ★★ same type
- NR2F2 p.Ala2Ser Uncertain significance ★★ ⚠ same type
- NR2F2 p.Gly180Arg Uncertain significance ★★ ⚠ same type
- NR2F2 p.Gly361Arg Uncertain significance ★★ ⚠ same type
- NR2F2 p.His90Arg Uncertain significance ★★ ⚠ same type
- NR2F2 p.Lys137Arg Uncertain significance ★★ ⚠ same type
- NR2F2 p.Pro32Arg Uncertain significance ★★ ⚠ 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/nr2f2-p-glu147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown