MAGED2 p.Pro318=
c.954C>T · rs149100572 · VCV730181
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0698%, afr)
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 -2.3 | GERP -3.9 |
| Overall | ||
| CADD | 6.806 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0698%
African / African-American · 40/57,305 alleles
Filtering AF
0.0526%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0467%
Overall
0.00728%
88/1,208,080 alleles · ultra-rare
exomes 65/1,095,606 · genomes 23/112,474 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0698% | 1,433 |
| East Asian | 0.0503% | 1,986 |
| Admixed American | 0.00654% | 15,288 |
| Remaining individualsnot grpmax-eligible | 0.00421% | 23,762 |
| European (non-Finnish) | 0.0028% | 35,730 |
| South Asian | 0.00177% | 56,635 |
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
- MAGED2
- Protein
- p.Pro318=
- Coding
- c.954C>T
- MANE Select
- NM_177433
- dbSNP
- rs149100572
- Type
- single nucleotide variant
- Location
- chrX:54811617 (GRCh38)
- Structure
- AlphaFold pLDDT 59.89
- Residue 318
- the mage domain
Similar variants
- MAGED2 p.Ala389Gly Uncertain significance ★★ ⚠ same type
- MAGED2 p.Ala97Gly Uncertain significance ★★ ⚠ same type
- MAGED2 p.Arg257His Uncertain significance ★★ ⚠ same type
- MAGED2 p.Pro153Ser Uncertain significance ★★ ⚠ same type
- MAGED2 p.Pro436Ser Uncertain significance ★★ ⚠ same type
- MAGED2 c.1085+101A>G Benign ★★ same type
- MAGED2 c.1166-46C>A Benign ★★ same type
- MAGED2 c.1208+122G>C Benign ★★ 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/maged2-p-pro318 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown