OTOG p.Ala306=
c.916_917= · VCV4910856
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.57 | GERP -2.5, phastCons 0.001 |
Variant & gene context
- Gene
- OTOG
- Protein
- p.Ala306=
- Coding
- c.916_917=
- MANE Select
- NM_001292063
- Type
- Variation
- Location
- chr11:17558235 (GRCh38)
- Gene constraint
- LOEUF 1.091 · pLI <0.01 (gnomAD)
- Residue 306
- the vwfd 1 domain
Similar variants
- OTOG p.Ala306Asn Uncertain significance ★★ same residue
- OTOG p.Ala306Thr Uncertain significance ★★ ⚠ same residue
- OTOG p.Ala306Asp Benign ★★ same residue
- OTOG p.Ala306fs Likely pathogenic ★ same residue
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/otog-p-ala306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown