MTMR11

Chr 1

myotubularin related protein 11

Also known as: CRA

NCBI Gene: 10903 ENSG00000014914 UniProt: A4FU01

Predicted to enable phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

LOEUF 1.09

Clinical Summary— MTMR11

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

93 VUS of 114 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.09LOEUF

pLI 0.000

Z-score 1.07

OE 0.83 (0.64–1.09)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.98Z-score

OE missense 0.86 (0.79–0.94)

343 obs / 398.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.64–1.09)

0≤0.351.4

Missense OE?0.86 (0.79–0.94)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 39 / 46.9Missense obs/exp: 343 / 398.3Syn Z: -0.73

ClinVar Variant Classifications

114 submitted variants in ClinVar

ClinVar

Classification Summary

VUS93

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	93	93
Likely Benign	0	0
Benign	0	0
Total	93	93

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

View in ClinVar →

13 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap MTMR11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →