PRR30

proline rich 30

Basic information

Region (hg38): 2:27136847-27139410

Previous symbols: [ "C2orf53" ]

Links

ENSG00000186143 ∙ NCBI:339779 ∙ ∙ HGNC:28677 ∙ Uniprot:Q53SZ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRR30 gene.

• Inborn genetic diseases (24 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR30 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			19	5		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	5	0

Variants in PRR30

This is a list of pathogenic ClinVar variants found in the PRR30 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-27137188-G-T		not specified	Uncertain significance (Oct 27, 2023)
2-27137197-G-A		not specified	Likely benign (May 11, 2022)
2-27137260-G-A		not specified	Uncertain significance (Sep 29, 2022)
2-27137272-G-T		not specified	Uncertain significance (Sep 19, 2023)
2-27137288-C-T		not specified	Uncertain significance (Jul 14, 2021)
2-27137294-G-A		not specified	Uncertain significance (Sep 27, 2022)
2-27137312-G-A		not specified	Uncertain significance (Jan 17, 2024)
2-27137339-A-C		not specified	Uncertain significance (Jun 16, 2022)
2-27137348-T-G		not specified	Likely benign (Feb 16, 2023)
2-27137429-G-A		not specified	Uncertain significance (Jul 06, 2021)
2-27137441-C-T		not specified	Uncertain significance (Dec 28, 2022)
2-27137452-C-T		not specified	Uncertain significance (Oct 26, 2023)
2-27137531-T-C		not specified	Uncertain significance (Jun 29, 2023)
2-27137537-G-T		not specified	Likely benign (Feb 14, 2024)
2-27137561-G-A		not specified	Uncertain significance (Nov 15, 2021)
2-27137623-A-G		not specified	Uncertain significance (Dec 05, 2022)
2-27137698-A-G		not specified	Uncertain significance (Jul 11, 2023)
2-27137735-C-T		not specified	Uncertain significance (Jan 09, 2024)
2-27137759-C-T		not specified	Uncertain significance (Jul 21, 2021)
2-27137875-A-G		not specified	Uncertain significance (Mar 27, 2023)
2-27137941-G-A		not specified	Uncertain significance (Oct 17, 2023)
2-27137972-G-A		not specified	Uncertain significance (Oct 29, 2021)
2-27138011-G-A		not specified	Likely benign (Jul 19, 2023)
2-27138011-G-T		not specified	Uncertain significance (Nov 10, 2021)
2-27138017-G-T		not specified	Uncertain significance (Jun 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR30	protein_coding	protein_coding	ENST00000335524	1	2556

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.19e-7	0.148	125514	0	234	125748	0.000931

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.758	213	246	0.864	0.0000147	2586
Missense in Polyphen		55	66.121	0.8318		664
Synonymous	-0.544	110	103	1.07	0.00000570	976
Loss of Function	-0.288	9	8.12	1.11	3.50e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00126	0.00126
Ashkenazi Jewish	0.00223	0.00218
East Asian	0.000165	0.000163
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.00134	0.00134
Middle Eastern	0.000165	0.000163
South Asian	0.000339	0.000327
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.78

Haploinsufficiency Scores

• pHI: 0.149
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Prr30