PRORP p.Gln334=
c.1002A>G · rs771213124 · VCV3041805
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00671%, nfe)
Conditions
1
PRORP-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.29 | GERP -3.5, phastCons 0.001 |
| Overall | ||
| CADD | 5.739 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00671%
European (non-Finnish) · 79/1,178,046 alleles
Filtering AF
0.00547%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00507%
Overall
0.0054%
87/1,610,666 alleles · very rare
exomes 81/1,458,452 · genomes 6/152,214 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00671% | 14,912 |
| South Asian | 0.00553% | 18,094 |
| African / African-American | 0.00267% | 37,421 |
| Finnishnot grpmax-eligible | 0.00156% | 63,950 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- PRORP
- Protein
- p.Gln334=
- Coding
- c.1002A>G
- MANE Select
- NM_014672
- dbSNP
- rs771213124
- Type
- single nucleotide variant
- Location
- chr14:35126750 (GRCh38)
- Gene constraint
- LOEUF 0.999 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.19 · 5 PDB
Disease context
PRORP-related disorder
Similar variants
- PRORP p.Asn437Ser Benign same condition
- PRORP p.Leu230= Likely benign same condition
- PRORP p.Arg421Cys Uncertain significance ★★ ⚠ same type
- PRORP p.Arg502Gln Uncertain significance ★★ ⚠ same type
- PRORP p.Asn412Ser Uncertain significance ★★ ⚠ same type
- PRORP p.Lys76= Likely benign ★★ same type
- PRORP p.Ala434Asp Likely pathogenic ★ ⚠ same type
- PRORP c.-1A>G Uncertain significance ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/prorp-p-gln334 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown