KRTAP10-6

Chr 21

keratin associated protein 10-6

Also known as: KAP10.6, KAP18.6, KRTAP18-6, KRTAP18.6

NCBI Gene: 386674 ENSG00000188155 UniProt: P60371

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

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Active trials

Pubs (1 yr)

P/LP submissions

—

P/LP missense

1.94

LOEUF

Multiple*

Mechanism· predicted

Clinical Summary— KRTAP10-6

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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

1.94LOEUF

pLI 0.000

Z-score -1.45

OE 1.60 (0.95–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint

-1.65Z-score

OE missense 1.33 (1.20–1.47)

264 obs / 198.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios

LoF OE1.60 (0.95–1.94)

0≤0.351.4

Missense OE1.33 (1.20–1.47)

0≤0.61.4

Synonymous OE1.43

0≤1.21.6

LoF obs/exp: 11 / 6.9Missense obs/exp: 264 / 198.7Syn Z: -3.19

0.86top 5%

GOF

0.86top 5%

LOF

0.3454th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median

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.