SOBP p.Pro711=
c.2133G>A · rs1433100286 · VCV755735
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0226%, nfe)
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 -1.6 | GERP -1.4 |
| Overall | ||
| CADD | 10.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0226%
European (non-Finnish) · 194/857,444 alleles
Filtering AF
0.02%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.019%
Overall
0.0192%
197/1,023,502 alleles · ultra-rare
exomes 174/877,708 · genomes 23/145,794 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0226% | 4,420 |
| South Asian | 0.00446% | 22,444 |
| African / African-American | 0.00349% | 28,688 |
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
- SOBP
- Protein
- p.Pro711=
- Coding
- c.2133G>A
- MANE Select
- NM_018013
- dbSNP
- rs1433100286
- Type
- single nucleotide variant
- Location
- chr6:107634977 (GRCh38)
- Gene constraint
- LOEUF 0.191 · pLI 1.00 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 52.41
Similar variants
- SOBP p.Pro711Thr Uncertain significance ★ ⚠ same residue
- SOBP c.573+12G>A Uncertain significance ★★ same type
- SOBP p.Ala208Thr Uncertain significance ★★ ⚠ same type
- SOBP p.Ala702Val Uncertain significance ★★ ⚠ same type
- SOBP p.Glu89Lys Uncertain significance ★★ ⚠ same type
- SOBP p.Lys862Asn Uncertain significance ★★ ⚠ same type
- SOBP p.Pro138Leu Uncertain significance ★★ same type
- SOBP p.Pro139Ser 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/sobp-p-pro711 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown