BMP7 p.Lys418=
c.1254G>A · VCV4727969
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 2.1 | GERP -5.3, phastCons 1 |
| Overall | ||
| CADD | 10.95 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BMP7
- Protein
- p.Lys418=
- Coding
- c.1254G>A
- MANE Select
- NM_001719
- Type
- single nucleotide variant
- Location
- chr20:57171001 (GRCh38)
- Gene constraint
- LOEUF 0.523 · pLI 0.96 (gnomAD)
- Structure
- AlphaFold pLDDT 76.50 · 4 PDB
- Residue 418
- a disulfide bond; a β-strand
Similar variants
- BMP7 p.Arg150His Uncertain significance ★★ ⚠ same type
- BMP7 p.Arg267Gln Uncertain significance ★★ ⚠ same type
- BMP7 p.His241Tyr Uncertain significance ★★ ⚠ same type
- BMP7 p.Ile386Val Uncertain significance ★★ ⚠ same type
- BMP7 p.Leu160Phe Uncertain significance ★★ same type
- BMP7 p.Pro116Ser Uncertain significance ★★ ⚠ same type
- BMP7 p.Ser248Leu Uncertain significance ★★ ⚠ same type
- BMP7 p.Thr251Met 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/bmp7-p-lys418 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown