BAG3 p.Pro209=
c.627G>A · rs188555685 · VCV516736
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 -8.7 | GERP -4.9 |
| Overall | ||
| CADD | 1.209 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.033% | 3,031 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,627 |
| African / African-American | 0.00533% | 18,757 |
| Admixed American | 0.005% | 20,005 |
| European (non-Finnish) | 0.00271% | 36,876 |
| East Asian | 0.00223% | 44,864 |
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
- BAG3
- Protein
- p.Pro209=
- Coding
- c.627G>A
- MANE Select
- NM_004281
- dbSNP
- rs188555685
- Type
- single nucleotide variant
- Location
- chr10:119672374 (GRCh38)
- Gene constraint
- LOEUF 0.538 · pLI 0.92 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.98
- Residue 209
- a UniProt-annotated variant site (in mfm6; pathogenic; affects function in protein folding; results in decreased adenyl-nucleotide exchange factor activity; results in aggregation of hsp70 chaperones and proteasomal substrates; reduced thermal stability; affects quaternary structure and the mutant forms non-native oligomers); a UniProt-annotated variant site (in mfm6; likely pathogenic); a UniProt-annotated variant site (in cmt2jj; likely pathogenic)
Disease context
myofibrillar myopathy 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: dilated cardiomyopathy 1HH
For BAG3-related myofibrillar myopathy (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Childhood
Similar variants
- BAG3 p.Pro209Leu Pathogenic ★★ same residue
- BAG3 p.Pro209Ser Pathogenic/Likely pathogenic ★★ same residue
- BAG3 p.Pro209Gln Pathogenic ★ same residue
- BAG3 p.Pro209Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
- BAG3 p.Arg121Ter Pathogenic/Likely pathogenic ★★ same condition
- BAG3 p.Arg123Ter Pathogenic/Likely pathogenic ★★ same condition
- BAG3 p.Arg309Ter Pathogenic ★★ same condition
- BAG3 p.Arg473Ter Pathogenic/Likely pathogenic ★★ 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/bag3-p-pro209 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown