PRR14L

Gene

proline rich 14 like

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C22orf30

MANE transcript

NM_173566.3

Inheritance

—

ClinVar variants

U:281B:33

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.17

Max pathogenic AF

—

Genomic locus

chr22:31,676,256-31,750,140

External References & Databases

Ensembl (ENSG00000183530)

Transcript & Mutation Effects

hg38 • Region Span ~73.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PRR14L variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 299

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173566.3. 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	1 clinvar	2
missense			279 clinvar	27 clinvar	4 clinvar	310
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	281	28	5	314

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173566.3	RefSeq	NP_775837.2	8	MANE Select
ENST00000327423.11	Ensembl	ENSP00000331845.6	8	MANE Select
ENST00000330495.8	Ensembl	ENSP00000332169.4	6	Standard
ENST00000412743.1	Ensembl	ENSP00000411129.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327423
Coding exons: 8
Length: 73885
Individuals with no LoFs: 125741
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125745
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.47	866	1.10e+3	0.790	0.0000542	14188
Missense (PolyPhen)		181	256.01	0.70701		3506
Synonymous	3.22	326	409	0.798	0.0000211	4163
Loss of Function	6.25	11	65.6	0.168	0.00000354	939

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 3.8
RVIS percentile EVS: 99.62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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