TDRD10

Chr 1

tudor domain containing 10

NCBI Gene: 126668 ENSG00000163239 UniProt: Q5VZ19 OMIM: 621615

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be active in membrane and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be active in membrane and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

GOFmechanismLOEUF 0.92

Clinical Summary— TDRD10

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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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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.92LOEUF

pLI 0.000

Z-score 1.83

OE 0.56 (0.35–0.92)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.01Z-score

OE missense 0.81 (0.71–0.91)

171 obs / 212.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.56 (0.35–0.92)

0≤0.351.4

Missense OE?0.81 (0.71–0.91)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 11 / 19.8Missense obs/exp: 171 / 212.3Syn Z: 0.33

This gene — mechanism propensity

0.5575th %ile

GOF

0.80top 10%

LOF

0.2970th %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.