CRACD

protein-coding

capping protein inhibiting regulator of actin dynamics

Gene summary

Involved in negative regulation of barbed-end actin filament capping. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1211

MANE transcript

NM_001393381.1

Inheritance

—

ClinVar variants

U:230B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr4:56,049,098-56,330,609

External References & Databases

Ensembl (ENSG00000109265)

Transcript & Mutation Effects

hg38 • Region Span ~281.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CRACD variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 233

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001393381.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			227 clinvar	7 clinvar		234
nonsense						0
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	230	7	0	237

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001393381.1	RefSeq	NP_001380310.1	8	MANE Select
ENST00000682029.1	Ensembl	ENSP00000507165.1	8	MANE Select
NM_001393382.1	RefSeq	NP_001380311.1	8	Standard
NM_001393383.1	RefSeq	NP_001380312.1	7	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000504228
Coding exons: 8
Length: 158431
Individuals with no LoFs: 124820
Homozygous LoFs: 0
Heterozygous LoFs: 26
Defined: 124846
p: 0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.356	725	753	0.963	0.0000505	7930
Missense (PolyPhen)		134	127.95	1.0473		1360
Synonymous	-0.457	346	335	1.03	0.0000262	2481
Loss of Function	4.08	16	45.8	0.349	0.00000241	532

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000064	rare
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00017	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000054	0.000053	rare
South Asian	0.000066	0.000065	rare
Other	0.00051	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.461
RVIS EVS: 1.63
RVIS percentile EVS: 96.08

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.103

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High