PRR30
Geneproline rich 30
Gene summary
No gene description available in the current model. Review primary literature for detailed gene function and characteristics.
- C2orf53
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.6 kbGenCC 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 PRR30 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_178553.4. 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 | 0 | |||||
| missense | 70 | 11 | 81 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 70 | 11 | 0 | 81 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_848648.2 | 1 | MANE Select | |
| Ensembl | ENSP00000335017.3 | 1 | MANE Select | |
| Ensembl | ENSP00000393468.2 | 2 | Standard |
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000335524
- Coding exons
- 1
- Length
- 2556
- Individuals with no LoFs
- 125514
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 234
- Defined
- 125748
- p
- 0.000931
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.758 | 213 | 246 | 0.864 | 0.0000147 | 2586 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00031 | 0.00031 | rare |
| Latino/Admixed American | 0.00095 | 0.00095 | rare |
| Ashkenazi Jewish | 0.0022 | 0.0022 | notable |
| East Asian | 0.00017 | 0.00016 | rare |
| Finnish | 0.000093 | 0.000092 | rare |
| European (Non-Finnish) | 0.0013 | 0.0013 | notable |
| South Asian | 0.00034 | 0.00033 | rare |
| Other | 0.0011 | 0.0011 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- 0.6
- RVIS percentile EVS
- 82.78
Essentials
- Essential (gene trap)
- N