RBFOX2 p.Pro33=
c.99C>G · rs761349823 · VCV763485
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00281%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 13.51 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00281%
East Asian · 1/35,614 alleles
Overall
0.000133%
2/1,504,790 alleles · very rare
exomes 1/1,352,898 · genomes 1/151,892 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00281% | 35,614 |
| South Asian | 0.00123% | 81,086 |
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
- RBFOX2
- Protein
- p.Pro33=
- Coding
- c.99C>G
- MANE Select
- NM_001349999
- dbSNP
- rs761349823
- Type
- single nucleotide variant
- Location
- chr22:36028327 (GRCh38)
- Gene constraint
- LOEUF 0.336 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 55.86 · 1 PDB
- Residue 33
- the 'disordered' region
Similar variants
- RBFOX2 p.Asp417Asn Uncertain significance ★★ same type
- RBFOX2 p.Asp41His Uncertain significance ★★ same type
- RBFOX2 p.Glu229Gln Uncertain significance ★★ same type
- RBFOX2 p.Gly133Arg Uncertain significance ★★ same type
- RBFOX2 p.Gly409Ser Uncertain significance ★★ same type
- RBFOX2 p.Met91Val Uncertain significance ★★ same type
- RBFOX2 p.Pro104Leu Uncertain significance ★★ same type
- RBFOX2 p.Pro307Ser 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/rbfox2-p-pro33 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown