NR2F1 p.Pro23=
c.69C>T · rs1554074634 · VCV453017
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 1,010,648)
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 3.1 | GERP -3, phastCons 1 |
| Overall | ||
| CADD | 14.69 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,010,648). 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
- NR2F1
- Protein
- p.Pro23=
- Coding
- c.69C>T
- MANE Select
- NM_005654
- dbSNP
- rs1554074634
- Type
- single nucleotide variant
- Location
- chr5:93585092 (GRCh38)
- Gene constraint
- LOEUF 0.133 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.81 · 1 PDB
- Residue 23
- the 'disordered' region
Similar variants
- NR2F1 c.463+1G>A Likely pathogenic ★★ same type
- NR2F1 p.Arg366Cys Likely pathogenic ★★ same type
- NR2F1 p.Cys106Tyr Pathogenic/Likely pathogenic ★★ same type
- NR2F1 p.Cys122Tyr Likely pathogenic ★★ same type
- NR2F1 p.Cys128Arg Likely pathogenic ★★ same type
- NR2F1 p.Cys146Tyr Pathogenic/Likely pathogenic ★★ same type
- NR2F1 p.Cys86Arg Pathogenic/Likely pathogenic ★★ same type
- NR2F1 p.Gly105Ser 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/nr2f1-p-pro23 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown