COMP p.Thr585=
c.1755G>A · rs34467947 · VCV255119
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 -16 | GERP -4 |
| Overall | ||
| CADD | 2.287 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Finnishnot grpmax-eligible | 11.8% | 8 |
| European (non-Finnish)grpmax | 7.15% | 14 |
| Remaining individualsnot grpmax-eligible | 4.88% | 20 |
| Ashkenazi Jewishnot grpmax-eligible | 3.02% | 33 |
| Admixed American | 2.28% | 44 |
| South Asian | 1.51% | 66 |
| Amishnot grpmax-eligible | 1.43% | 70 |
| African / African-American | 1.12% | 89 |
| Middle Eastern | 0.792% | 126 |
| East Asian | 0.0223% | 4,487 |
Finnish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- COMP
- Protein
- p.Thr585=
- Coding
- c.1755G>A
- MANE Select
- NM_000095
- dbSNP
- rs34467947
- Type
- single nucleotide variant
- Location
- chr19:18785055 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
- Residue 585
- a UniProt-annotated variant site (in psach; mild form and edm1); a UniProt-annotated variant site (in edm1 and psach); the tsp c-terminal domain; a β-strand; the 'mediates cell survival and induction of the iap family of survival proteins' region; a disulfide bond
Disease context
pseudoachondroplasia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: multiple epiphyseal dysplasia type 1carpal tunnel syndrome 2
For Pseudoachondroplasia (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Worldwide)
Similar variants
- COMP p.Thr585Met Pathogenic ★★ same residue
- COMP p.Thr585Arg Pathogenic ★ same residue
- COMP p.Thr585Lys Likely pathogenic ★ same residue
- COMP p.Arg718Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- COMP p.Asn489Lys Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asn523Lys Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asn555Lys Pathogenic/Likely pathogenic ★★ same condition
- COMP p.Asp269Gly 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/comp-p-thr585 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown