AVEN

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	1 clinvar		2
missense			77 clinvar	1 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	80	2	0	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020371.3	RefSeq	NP_065104.1	6	MANE Select
ENST00000306730.8	Ensembl	ENSP00000306822.3	6	MANE Select
ENST00000560649.1	Ensembl	ENSP00000452906.1	3	Standard
ENST00000964282.1	Ensembl	ENSP00000634341.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

apoptotic process
negative regulation of apoptotic process

Molecular Function

protein binding

Cellular Component

endomembrane system
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000306730
Coding exons: 6
Length: 172950
Individuals with no LoFs: 125632
Homozygous LoFs: 0
Heterozygous LoFs: 116
Defined: 125748
p: 0.000461

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.13	215	143	1.50	0.00000695	2271
Missense (PolyPhen)		81	61.378	1.3197		810
Synonymous	-0.808	63	55.4	1.14	0.00000284	742
Loss of Function	0.344	14	15.5	0.906	8.70e-7	204

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0023	0.0023	notable
Latino/Admixed American	0.00029	0.00029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00044	0.00044	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00038	0.00038	rare
South Asian	0.00023	0.00023	rare
Other	0.0016	0.0016	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Protects against apoptosis mediated by Apaf-1.;

Recessive Scores

pRec: 0.140

Intolerance Scores

LoFtool: 0.873
RVIS EVS: 0.8
RVIS percentile EVS: 87.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.951

Gene Damage Prediction

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