ZNF831

protein-coding

zinc finger protein 831, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C20orf174

MANE transcript

NM_178457.3

Inheritance

—

ClinVar variants

U:239B:37

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.52

Max pathogenic AF

—

Genomic locus

chr20:59,123,381-59,259,113

External References & Databases

Ensembl (ENSG00000124203)

Transcript & Mutation Effects

hg38 • Region Span ~135.7 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 ZNF831 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 255

not providedTotal: 15

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178457.3. 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	3 clinvar	5 clinvar	10
missense			236 clinvar	23 clinvar	6 clinvar	265
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	239	26	11	276

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178457.3	RefSeq	NP_848552.1	5	MANE Select
ENST00000371030.4	Ensembl	ENSP00000360069.2	5	MANE Select
NM_001384354.1	RefSeq	NP_001371283.1	5	Standard
ENST00000637017.1	Ensembl	ENSP00000490240.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

nucleic acid binding
metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000371030
Coding exons: 5
Length: 68094
Individuals with no LoFs: 124659
Homozygous LoFs: 2
Heterozygous LoFs: 126
Defined: 124787
p: 0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.542	931	979	0.951	0.0000593	10571
Missense (PolyPhen)		190	229.41	0.82822		2399
Synonymous	0.971	406	432	0.941	0.0000287	3730
Loss of Function	2.92	22	42.5	0.518	0.00000221	496

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00034	0.00032	rare
Latino/Admixed American	0.0029	0.0025	notable
Ashkenazi Jewish	0.00012	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.00028	0.00019	rare
European (Non-Finnish)	0.00018	0.00016	rare
South Asian	0.00028	0.00026	rare
Other	0.00090	0.00082	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.656
RVIS EVS: 1.33
RVIS percentile EVS: 94.11

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0788

Gene Damage Prediction

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