RHBDF2 p.Arg206Pro
c.617G>C · rs145040227 · VCV890465
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3442 | ambiguous |
|---|---|---|
| REVEL | 0.382 | indeterminate |
| SaProt | LLR -7.42 | tolerated |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 0.91, phastCons 1 |
| Regional constraint | o/e 0.84 | unconstrained · MANE · 7,466 bp · p 2.1e-05 · regional, not allelic |
| Overall | ||
| CADD | 26.2 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
⚠ Isoform check: AlphaMissense numbered on a different transcript (AM R235P vs ClinVar R206P) — verify the residue.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0256% | 3,907 |
| Remaining individualsnot grpmax-eligible | 0.0176% | 5,678 |
| Admixed American | 0.00668% | 14,978 |
| African / African-American | 0.00133% | 75,044 |
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
- RHBDF2
- Protein
- p.Arg206Pro
- Coding
- c.617G>C
- MANE Select
- NM_001005498
- dbSNP
- rs145040227
- Type
- single nucleotide variant
- Location
- chr17:76478861 (GRCh38)
- Gene constraint
- LOEUF 0.545 · pLI 0.15 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.53 · 5 PDB
- Residue 235 UniProt numbering
- the 'involved in interaction with frmd8' region
Similar variants
- RHBDF2 p.Arg206Cys Uncertain significance ★★ same residue
- RHBDF2 p.Arg206His Uncertain significance ★★ ⚠ same residue
- RHBDF2 p.Ile157Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- RHBDF2 c.151-27G>T Uncertain significance ★★ ⚠ same condition
- RHBDF2 c.151-86G>A Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Ala397Ser Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Ala700Thr Uncertain significance ★★ ⚠ same condition
- RHBDF2 p.Ala725Val Uncertain significance ★★ ⚠ same condition
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/rhbdf2-p-arg206pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown