MAPRE2 p.Pro322=
c.966G>A · rs140836474 · VCV782046
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.59%, mid)
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 | GERP -2.8, phastCons 1 |
| Overall | ||
| CADD | 10.65 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.59%
Middle Eastern · 157/6,060 alleles
Filtering AF
2.26%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.13%
Overall
0.865%
13,950/1,613,118 alleles · low-frequency
exomes 12,948/1,460,804 · genomes 1,002/152,314 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 2.59% | 39 |
| Ashkenazi Jewishnot grpmax-eligible | 1.26% | 79 |
| European (non-Finnish) | 1.01% | 99 |
| Remaining individualsnot grpmax-eligible | 0.879% | 114 |
| Admixed American | 0.683% | 147 |
| South Asian | 0.257% | 390 |
| African / African-American | 0.235% | 426 |
| Amishnot grpmax-eligible | 0.219% | 456 |
| Finnishnot grpmax-eligible | 0.197% | 508 |
| East Asian | 0.0112% | 8,964 |
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
- MAPRE2
- Protein
- p.Pro322=
- Coding
- c.966G>A
- MANE Select
- NM_014268
- dbSNP
- rs140836474
- Type
- single nucleotide variant
- Location
- chr18:35140351 (GRCh38)
- Gene constraint
- LOEUF 0.494 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 75.12
- Residue 322
- the 'dctn1-binding' region; the 'disordered' region
Similar variants
- MAPRE2 p.Arg143Cys Pathogenic/Likely pathogenic ★★ same type
- MAPRE2 p.Glu318Lys Uncertain significance ★★ ⚠ same type
- MAPRE2 p.Ser28Ter Uncertain significance ★★ same type
- MAPRE2 c.250+8A>T Benign/Likely benign ★★ same type
- MAPRE2 p.Gly260= Benign ★★ same type
- MAPRE2 p.His282= Benign/Likely benign ★★ same type
- MAPRE2 p.Arg173Gln Likely pathogenic ★ same type
- MAPRE2 c.123-6T>C 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/mapre2-p-pro322 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown