VWA8

protein-coding

von Willebrand factor A domain containing 8, the group of MicroRNA protein coding host genes

Gene summary

Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. Implicated in retinitis pigmentosa 97. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA0564

MANE transcript

NM_015058.2

Inheritance

ClinVar variants

P:2U:194B:20

Top phenotype

Retinitis pigmentosa 97

gnomAD constraint

pLI —, LoF o/e 0.98

Max pathogenic AF

—

Genomic locus

chr13:41,566,835-41,961,120

External References & Databases

Ensembl (ENSG00000102763)

Transcript & Mutation Effects

hg38 • Region Span ~394.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

retinitis pigmentosa 97LIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0957314

Submitter: Ambry Genetics

retinitis pigmentosa 97LIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0957314

Submitter: Labcorp Genetics (formerly Invitae)

retinitis pigmentosa 97STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0957314

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Retinitis pigmentosa 97AD

Manifestation: Ophthalmologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 37012052

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to VWA8 variants in ClinVar

6 Conditions Cataloged

not specifiedTotal: 164

not providedTotal: 27

Nonsyndromic cleft lip palateTotal: 5

Retinitis pigmentosa 97Total: 5

Autosomal recessive early-onset Parkinson disease 23Total: 1

Developmental delayTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015058.2. 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			1 clinvar	6 clinvar	3 clinvar	10
missense		1 clinvar	182 clinvar	8 clinvar	3 clinvar	194
nonsense		1 clinvar	2 clinvar			3
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	2	194	14	6	216

Highest pathogenic variant AF is 0.000013633147

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015058.2	RefSeq	NP_055873.1	45	MANE Select
ENST00000379310.8	Ensembl	ENSP00000368612.3	45	MANE Select
NM_001009814.2	RefSeq	NP_001009814.1	26	Standard
ENST00000281496.6	Ensembl	ENSP00000281496.6	26	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
ATP binding
ATPase activity

Cellular Component

mitochondrion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379310
Coding exons: 45
Length: 394284
Individuals with no LoFs: 125054
Homozygous LoFs: 0
Heterozygous LoFs: 694
Defined: 125748
p: 0.00276

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.206	1028	1.01e+3	1.02	0.0000535	12390
Missense (PolyPhen)		374	367.34	1.0181		4275
Synonymous	-0.289	372	365	1.02	0.0000197	3718
Loss of Function	0.202	107	109	0.979	0.00000616	1270

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0035	0.0034	notable
Latino/Admixed American	0.0035	0.0035	notable
Ashkenazi Jewish	0.0033	0.0033	notable
East Asian	0.0019	0.0019	notable
Finnish	0.00051	0.00051	rare
European (Non-Finnish)	0.0026	0.0026	notable
South Asian	0.0046	0.0046	notable
Other	0.0015	0.0015	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Exhibits ATPase activity in vitro. {ECO:0000250|UniProtKB:Q8CC88}.;

Recessive Scores

pRec: 0.104

Intolerance Scores

RVIS EVS: -0.88
RVIS percentile EVS: 10.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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