INAFM1

Chr 19

InaF motif containing 1

Also known as: PRR24

NCBI Gene: 255783 ENSG00000257704 UniProt: C9JVW0

The protein encoded by INAFM1 is predicted to be a membrane-associated protein, though its specific function remains unclear. Mutations in this gene have not been definitively associated with any recognized genetic disorders or clinical phenotypes. The gene shows moderate tolerance to loss-of-function variants based on population genetic data.

ResearchSummary from RefSeq

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

GOFmechanismLOEUF 1.87

Clinical Summary— INAFM1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.87LOEUF

pLI 0.309

Z-score 0.47

OE 0.00 (0.00–1.87)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.15Z-score

OE missense 1.52 (1.23–1.85)

60 obs / 39.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.87)

0≤0.351.4

Missense OE?1.52 (1.23–1.85)

0≤0.61.4

Synonymous OE?1.98

0≤1.21.6

LoF obs/exp: 0 / 0.3Missense obs/exp: 60 / 39.6Syn Z: -3.38

This gene — mechanism propensity

0.6065th %ile

GOF

0.76top 25%

LOF

0.4726th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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.