CPO

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	2 clinvar		3
missense			55 clinvar	2 clinvar		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	4	0	60

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173077.3	RefSeq	NP_775100.1	9	MANE Select
ENST00000272852.4	Ensembl	ENSP00000272852.2	9	MANE Select
ENST00001131045.1	Ensembl	ENSP00000800850.1	7	Standard
ENST00001142988.1	Ensembl	ENSP00000804135.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

metallocarboxypeptidase activity
zinc ion binding

Cellular Component

extracellular space
apical plasma membrane
anchored component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000272852
Coding exons: 9
Length: 29921
Individuals with no LoFs: 125528
Homozygous LoFs: 1
Heterozygous LoFs: 209
Defined: 125738
p: 0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.479	183	202	0.905	0.0000101	2440
Missense (PolyPhen)		50	53.933	0.92707		711
Synonymous	-0.375	80	75.8	1.05	0.00000404	705
Loss of Function	-1.32	27	20.5	1.32	0.00000102	247

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0069	0.0069	notable
Latino/Admixed American	0.00056	0.00055	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00033	0.00033	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00041	0.00040	rare
South Asian	0.00082	0.00082	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Carboxypeptidase which preferentially cleaves C-terminal acidic residues from peptides and proteins. Can also cleave C- terminal hydrophobic amino acids, with a preference for small residues over large residues. {ECO:0000269|PubMed:21921028}.;

Recessive Scores

pRec: 0.0942

Intolerance Scores

LoFtool: 0.917
RVIS EVS: 0.67
RVIS percentile EVS: 84.61

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.000726

Gene Damage Prediction

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