FAM227A

Chr 22

family with sequence similarity 227 member A

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.17
LOEUF
GOF
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?
1.17LOEUF
pLI 0.000
Z-score 0.79
OE 0.85 (0.631.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.10Z-score
OE missense 0.83 (0.750.92)
267 obs / 322.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.631.17)
00.351.4
Missense OE?0.83 (0.750.92)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 27 / 31.8Missense obs/exp: 267 / 322.6Syn Z: 1.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAM227A · 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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