RERE p.Pro768=
c.2304C>G · rs749874309 · VCV2638172
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0283%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.054 | GERP -4.1, phastCons 0.005 |
| Overall | ||
| CADD | 0.829 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0283%
Admixed American · 12/42,402 alleles
Filtering AF
0.0163%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0127%
Overall
0.00187%
28/1,498,118 alleles · ultra-rare
exomes 20/1,346,084 · genomes 8/152,034 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0283% | 3,533 |
| Middle Eastern | 0.0188% | 5,308 |
| Remaining individualsnot grpmax-eligible | 0.00691% | 14,469 |
| European (non-Finnish) | 0.000973% | 102,740 |
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
- RERE
- Protein
- p.Pro768=
- Coding
- c.2304C>G
- MANE Select
- NM_001042681
- dbSNP
- rs749874309
- Type
- single nucleotide variant
- Location
- chr1:8361203 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.51 · 1 PDB
- Residue 768
- the 'disordered' region
Similar variants
- RERE p.Pro768Leu Likely benign ★★ same residue
- RERE p.Pro768Arg Uncertain significance ★ ⚠ same residue
- RERE p.Gln858Ter Pathogenic/Likely pathogenic ★★ same type
- RERE p.His1429Arg Likely pathogenic ★★ same type
- RERE p.His1431Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- RERE p.His1433Pro Likely pathogenic ★★ ⚠ same type
- RERE p.His1435Arg Pathogenic/Likely pathogenic ★★ same type
- RERE p.His1435Leu Likely pathogenic ★★ 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/rere-p-pro768 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown