FAM88E

Chr 9

family with sequence similarity 88 member E

22
ClinVar variants
20
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryFAM88E
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic of 22 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

22 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
Benign2
19
Pathogenic
1
Likely Pathogenic
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
2
Total22

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM88E · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.