FASTKD1

Chr 2

FAST kinase domains 1

NCBI Gene: 79675 ENSG00000138399 UniProt: Q53R41 OMIM: 617529

Enables RNA binding activity. Involved in mitochondrial RNA metabolic process and regulation of mitochondrial mRNA stability. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.37

Clinical Summary— FASTKD1

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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

1 unique Pathogenic / Likely Pathogenic· 111 VUS of 145 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?

1.37LOEUF

pLI 0.000

Z-score -0.35

OE 1.06 (0.83–1.37)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.55Z-score

OE missense 0.93 (0.85–1.00)

400 obs / 432.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.06 (0.83–1.37)

0≤0.351.4

Missense OE?0.93 (0.85–1.00)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 42 / 39.6Missense obs/exp: 400 / 432.4Syn Z: -0.22

ClinVar Variant Classifications

145 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS111

Likely Benign9

Benign2

Pathogenic

111

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	1	1
Likely Pathogenic	0	0	0
VUS	0	111	111
Likely Benign	0	9	9
Benign	2	0	2
Total	2	121	123

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

View in ClinVar →

15 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap FASTKD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →