SOX18 p.Pro237=
c.711C>G · VCV4753823
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0216%, amr)
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 0.4 | GERP -1.9, phastCons 0.99 |
| Overall | ||
| CADD | 11.42 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0216%
Admixed American · 5/23,162 alleles
Filtering AF
0.00845%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00546%
Overall
0.000639%
8/1,251,574 alleles · ultra-rare
exomes 7/1,099,978 · genomes 1/151,596 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0216% | 4,632 |
| European (non-Finnish) | 0.0003% | 333,724 |
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
- SOX18
- Protein
- p.Pro237=
- Coding
- c.711C>G
- MANE Select
- NM_018419
- Type
- single nucleotide variant
- Location
- chr20:64048610 (GRCh38)
- Gene constraint
- LOEUF 1.483 · pLI 0.22 (gnomAD)
- Structure
- AlphaFold pLDDT 63.44
Similar variants
- SOX18 p.Pro237Thr Uncertain significance ★ ⚠ same residue
- SOX18 p.Gln161Ter Pathogenic/Likely pathogenic ★★ same type
- SOX18 p.Ala162Glu Uncertain significance ★★ ⚠ same type
- SOX18 p.Ala229Val Uncertain significance ★★ ⚠ same type
- SOX18 p.Ala250Thr Uncertain significance ★★ ⚠ same type
- SOX18 p.Ala30Ser Uncertain significance ★★ ⚠ same type
- SOX18 p.Arg140Leu Uncertain significance ★★ ⚠ same type
- SOX18 p.Arg271Lys 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/sox18-p-pro237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown