The ZNF200 protein binds zinc ions and localizes protein arginine N-methyltransferase PRMT3 to the nucleus. This gene is highly constrained against loss-of-function variation (pLI ~1.0), but no human disease associations have been established for ZNF200 mutations.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.16
Clinical SummaryZNF200
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
33 unique Pathogenic / Likely Pathogenic· 84 VUS of 130 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.16LOEUF
pLI 0.000
Z-score 1.10
OE 0.70 (0.441.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-1.49Z-score
OE missense 1.29 (1.171.42)
273 obs / 212.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.70 (0.441.16)
00.351.4
Missense OE1.29 (1.171.42)
00.61.4
Synonymous OE1.23
01.21.6
LoF obs/exp: 11 / 15.7Missense obs/exp: 273 / 212.0Syn Z: -1.59
DN
0.6454th %ile
GOF
0.5267th %ile
LOF
0.4233th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

130 submitted variants in ClinVar

Classification Summary

Pathogenic33
VUS84
Likely Benign4
33
Pathogenic
84
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
33
0
33
Likely Pathogenic
0
0
0
0
0
VUS
0
66
18
0
84
Likely Benign
0
2
2
0
4
Benign
0
0
0
0
0
Total068530121

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZNF200 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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