COL20A1

Chr 20

collagen type XX alpha 1 chain

Predicted to be located in collagen-containing extracellular matrix; endoplasmic reticulum lumen; and extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.20
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.000
Z-score 0.19
OE 0.97 (0.791.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.45Z-score
OE missense 1.05 (0.991.11)
778 obs / 743.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.97 (0.791.20)
00.351.4
Missense OE?1.05 (0.991.11)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 62 / 63.6Missense obs/exp: 778 / 743.1Syn Z: -2.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

COL20A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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