AVPR2 p.Ala267Ile
c.799_800delinsAT · VCV4706520
Uncertain significance
Single submitter
Classification
Uncertain significance
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 5 | GERP 0.78, phastCons 1 |
| Regional constraint | o/e 0.80 | unconstrained · MANE · 1,579 bp · p 0.00022 · regional, not allelic |
Variant & gene context
- Gene
- AVPR2
- Protein
- p.Ala267Ile
- Coding
- c.799_800delinsAT
- MANE Select
- NM_000054
- Type
- Indel
- Location
- chrX:153906305 (GRCh38)
- Structure
- AlphaFold pLDDT 76.84 · 44 PDB
- Residue 267
- an α-helix
Similar variants
- AVPR2 p.Tyr117fs Pathogenic ★ 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/avpr2-p-ala267ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown