BMPER p.Arg505His
c.1514G>A · rs189187507 · VCV908340
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3726 | ambiguous |
|---|---|---|
| REVEL | 0.33 | indeterminate |
| SaProt | LLR -5.30 | tolerated |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 10 | GERP 2.3, phastCons 1 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 248 kb · p 0.0046 · regional, not allelic |
| Overall | ||
| CADD | 32.0 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.346% | 289 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0912% | 1,096 |
| Admixed American | 0.0833% | 1,201 |
| Remaining individualsnot grpmax-eligible | 0.0464% | 2,155 |
| East Asian | 0.0401% | 2,493 |
| European (non-Finnish) | 0.0141% | 7,109 |
| African / African-American | 0.012% | 8,338 |
| South Asian | 0.00659% | 15,179 |
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
- BMPER
- Protein
- p.Arg505His
- Coding
- c.1514G>A
- MANE Select
- NM_001365308
- dbSNP
- rs189187507
- Type
- single nucleotide variant
- Location
- chr7:34085861 (GRCh38)
- Gene constraint
- LOEUF 0.652 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 80.24
- Residue 505
- a disulfide bond; the vwfd domain
Similar variants
- BMPER p.Arg505Cys Uncertain significance ★ ⚠ same residue
- BMPER p.Arg241Ter Likely pathogenic ★★ same condition
- BMPER p.Gln309Ter Pathogenic ★★ same condition
- BMPER p.Ala39Ser Uncertain significance ★★ ⚠ same condition
- BMPER p.Ala486Val Uncertain significance ★★ ⚠ same condition
- BMPER p.Arg131Cys Uncertain significance ★★ ⚠ same condition
- BMPER p.Arg16Ser Uncertain significance ★★ ⚠ same condition
- BMPER p.Arg332His 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/bmper-p-arg505his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown