ADCK5

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 clinvar		4
missense			94 clinvar	5 clinvar		99
nonsense			2 clinvar			2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	102	7	0	109

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 87 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_174922.5	RefSeq	NP_777582.4	15	MANE Select
ENST00000308860.11	Ensembl	ENSP00000310547.6	15	MANE Select
ENST00000526833.2	Ensembl	ENSP00000436484.1	5	Standard
ENST00000529654.5	Ensembl	ENSP00000431875.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation

Molecular Function

protein serine/threonine kinase activity
protein binding

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000308860
Coding exons: 15
Length: 21668
Individuals with no LoFs: 125567
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125589
p: 0.0000876

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.18	250	368	0.680	0.0000254	3664
Missense (PolyPhen)		46	113.55	0.4051		1163
Synonymous	-0.135	165	163	1.01	0.0000117	1197
Loss of Function	3.18	9	26.7	0.337	0.00000131	291

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000090	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.000058	0.000054	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00011	0.000097	rare
South Asian	0.000069	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.342
RVIS EVS: 0
RVIS percentile EVS: 53.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.942

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium