MOGS p.Gln286His
c.858G>C · rs202095654 · VCV465844
Computational evidence
| Protein change | ||
| AlphaMissense | 0.1414 | likely benign |
|---|---|---|
| REVEL | 0.013 | strongly benign-leaning |
| SaProt | LLR -7.13 | tolerated |
| ⇒ AlphaMissense, REVEL and SaProt all call this tolerated. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.1 | GERP -0.9, phastCons 0.91 |
| Regional constraint | o/e 0.99 | unconstrained · MANE · 2,758 bp · p 0.9 · regional, not allelic |
| Overall | ||
| CADD | 15.07 | PHRED · no single calibrated threshold — expert panels disagree |
ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.218% | 458 |
| Admixed American | 0.0233% | 4,287 |
| Middle Eastern | 0.0165% | 6,062 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,418 |
| European (non-Finnish) | 0.000169% | 590,019 |
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
- MOGS
- Protein
- p.Gln286His
- Coding
- c.858G>C
- MANE Select
- NM_006302
- dbSNP
- rs202095654
- Type
- single nucleotide variant
- Location
- chr2:74462931 (GRCh38)
- Gene constraint
- LOEUF 0.85 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.42
Similar variants
- MOGS p.Arg495Ter Pathogenic/Likely pathogenic ★★ same condition
- MOGS p.Gln124Ter Pathogenic ★★ same condition
- MOGS p.Gln505Ter Pathogenic/Likely pathogenic ★★ same condition
- MOGS p.Ala22Glu Uncertain significance ★★ ⚠ same condition
- MOGS p.Ala292Asp Uncertain significance ★★ ⚠ same condition
- MOGS p.Ala292Pro Uncertain significance ★★ ⚠ same condition
- MOGS p.Ala41Val Uncertain significance ★★ ⚠ same condition
- MOGS p.Ala510Thr 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/mogs-p-gln286his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown