FAM230G

Chr 22

family with sequence similarity 230 member G

ResearchGenerating clinical summary…
LOEUF 1.45
Clinical SummaryFAM230G
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
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?
1.45LOEUF
pLI 0.481
Z-score 1.23
OE 0.00 (0.001.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-4.90Z-score
OE missense 1.96 (1.791.99)
405 obs / 206.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.001.45)
00.351.4
Missense OE?1.96 (1.791.99)
00.61.4
Synonymous OE?1.86
01.21.6
LoF obs/exp: 0 / 1.8Missense obs/exp: 405 / 206.8Syn Z: -7.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAM230G · 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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