NAALADL2

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				3 clinvar		3
missense			140 clinvar	4 clinvar	1 clinvar	145
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	142	7	1	150

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207015.3	RefSeq	NP_996898.2	14	MANE Select
ENST00000454872.6	Ensembl	ENSP00000404705.1	14	MANE Select
ENST00000414826.1	Ensembl	ENSP00000396969.1	2	Standard
ENST00000434257.1	Ensembl	ENSP00000409858.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to bacterium

Molecular Function

protein binding

Cellular Component

nucleoplasm
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000454872
Coding exons: 14
Length: 1367066
Individuals with no LoFs: 124480
Homozygous LoFs: 0
Heterozygous LoFs: 159
Defined: 124639
p: 0.000638

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.82	506	403	1.25	0.0000202	5164
Missense (PolyPhen)		114	108.8	1.0478		1384
Synonymous	-1.26	166	147	1.13	0.00000769	1512
Loss of Function	2.95	18	37.5	0.480	0.00000201	475

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00065	0.00065	rare
Latino/Admixed American	0.00030	0.00023	rare
Ashkenazi Jewish	0.00083	0.00080	rare
East Asian	0.00028	0.00028	rare
Finnish	0.00051	0.00051	rare
European (Non-Finnish)	0.00097	0.00096	rare
South Asian	0.00020	0.00020	rare
Other	0.00052	0.00050	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be catalytically inactive.;

Intolerance Scores

LoFtool: 0.903
RVIS EVS: 1.34
RVIS percentile EVS: 94.29

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.166

Gene Damage Prediction

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