HHIPL2

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	2
missense			127 clinvar	3 clinvar	1 clinvar	131
nonsense			2 clinvar			2
start loss						0
frameshift					2 clinvar	2
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	131	3	5	139

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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_024746.4	RefSeq	NP_079022.2	9	MANE Select
ENST00000343410.7	Ensembl	ENSP00000342118.6	9	MANE Select
ENST00001142515.1	Ensembl	ENSP00000807976.1	9	Standard
XM_011509986.2	RefSeq	XP_011508288.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

catalytic activity
protein binding

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000343410
Coding exons: 9
Length: 25844
Individuals with no LoFs: 125127
Homozygous LoFs: 2
Heterozygous LoFs: 618
Defined: 125747
p: 0.00247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.220	406	419	0.970	0.0000248	4705
Missense (PolyPhen)		155	163.18	0.9499		1946
Synonymous	0.0994	171	173	0.990	0.0000106	1460
Loss of Function	-0.577	32	28.7	1.12	0.00000172	325

Population LoF Frequency

Population	CAF	p-value	Status
African	0.019	0.019	notable
Latino/Admixed American	0.0012	0.0012	notable
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.0046	0.0046	notable
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.0014	0.0014	notable
South Asian	0.00056	0.00056	rare
Other	0.0020	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0865

Intolerance Scores

LoFtool: 0.959
RVIS EVS: 1.4
RVIS percentile EVS: 94.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.128

Gene Damage Prediction

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