RERE p.Pro965=
c.2895C>T · rs112375285 · VCV775125
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 7.22%, afr) — too common for a highly-penetrant pathogenic allele
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 -2.9 | GERP -2.9 |
| Overall | ||
| CADD | 3.837 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
7.22%
African / African-American · 5,084/70,452 alleles
Filtering AF
7.05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.98%
Overall
0.39%
5,903/1,513,224 alleles · common
exomes 2,801/1,361,872 · genomes 3,102/151,352 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 7.22% | 14 |
| Admixed American | 0.617% | 162 |
| Remaining individualsnot grpmax-eligible | 0.508% | 197 |
| Middle Eastern | 0.186% | 538 |
| European (non-Finnish) | 0.0204% | 4,904 |
| South Asian | 0.00656% | 15,240 |
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.Pro965=
- Coding
- c.2895C>T
- MANE Select
- NM_001042681
- dbSNP
- rs112375285
- Type
- single nucleotide variant
- Location
- chr1:8360612 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.51 · 1 PDB
- Residue 965
- the 'disordered' region
Similar variants
- RERE p.Pro965Ala Uncertain significance ★ ⚠ same residue
- RERE p.Pro965Ser 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-pro965 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown