SOX18 p.Pro232=
c.696A>T · rs2059409457 · VCV2872704
Likely benign
Single submitter
Classification
Likely benign
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 carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -3.9, phastCons 0.001 |
| Overall | ||
| CADD | 8.234 | 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
- SOX18
- Protein
- p.Pro232=
- Coding
- c.696A>T
- MANE Select
- NM_018419
- dbSNP
- rs2059409457
- Type
- single nucleotide variant
- Location
- chr20:64048625 (GRCh38)
- Gene constraint
- LOEUF 1.483 · pLI 0.22 (gnomAD)
- Structure
- AlphaFold pLDDT 63.44
Similar variants
- 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
- SOX18 p.Asp13Asn 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-pro232 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown