BMP6 p.Ala212Met
c.634_635delinsAT · VCV3257569
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 9.5 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 1.17 | unconstrained · MANE · 152 kb · p 7.1e-05 · regional, not allelic |
Variant & gene context
- Gene
- BMP6
- Protein
- p.Ala212Met
- Coding
- c.634_635delinsAT
- MANE Select
- NM_001718
- Type
- Indel
- Location
- chr6:7727589 (GRCh38)
- Gene constraint
- LOEUF 0.523 · pLI 0.94 (gnomAD)
- Structure
- AlphaFold pLDDT 69.74 · 5 PDB
- Residue 212
- a UniProt-annotated variant site (in io; associated with disease susceptibility)
Similar variants
- BMP6 p.Ala212= Benign 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/bmp6-p-ala212met (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown