COMP p.Thr527=
c.1581G>A · rs1190598083 · VCV1559952
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,613,426)
Conditions
1
connective tissue disorder
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 -0.15 | GERP -1.8, phastCons 0.069 |
| Overall | ||
| CADD | 8.075 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,613,426). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- COMP
- Protein
- p.Thr527=
- Coding
- c.1581G>A
- MANE Select
- NM_000095
- dbSNP
- rs1190598083
- Type
- single nucleotide variant
- Location
- chr19:18785760 (GRCh38)
- Gene constraint
- LOEUF 1.073 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 88.60 · 1 PDB
- Residue 527
- the 'mediates cell survival and induction of the iap family of survival proteins' region; a disulfide bond
Similar variants
- COMP p.Thr527Ala Likely pathogenic ★ ⚠ same residue
- COMP c.217+4A>G Uncertain significance ★★ same condition
- COMP p.Ser444Cys Uncertain significance ★★ ⚠ same condition
- COMP c.2227+8G>A Benign/Likely benign ★★ same condition
- COMP p.Ala171Thr Benign/Likely benign ★★ same condition
- COMP p.Arg718= Benign/Likely benign ★★ same condition
- COMP p.Asn386Asp Benign/Likely benign ★★ same condition
- COMP p.Asn652= Benign/Likely benign ★★ 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-thr527 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown