MPEG1 p.Ala467=
c.1401C>T · rs183721976 · VCV716949
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.28%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Overall | ||
| CADD | 0.582 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.28%
African / African-American · 962/75,048 alleles
Filtering AF
1.21%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.19%
Overall
0.0717%
1,157/1,614,180 alleles · low-frequency
exomes 589/1,461,874 · genomes 568/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.28% | 78 |
| Middle Eastern | 0.165% | 606 |
| Admixed American | 0.117% | 858 |
| Remaining individualsnot grpmax-eligible | 0.107% | 933 |
| European (non-Finnish) | 0.0039% | 25,653 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,608 |
| South Asian | 0.0011% | 91,080 |
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
- MPEG1
- Protein
- p.Ala467=
- Coding
- c.1401C>T
- MANE Select
- NM_001039396
- dbSNP
- rs183721976
- Type
- single nucleotide variant
- Location
- chr11:59211465 (GRCh38)
- Gene constraint
- LOEUF 1.941 · pLI 0.02 (gnomAD)
- Structure
- AlphaFold pLDDT 83.22 · 5 PDB
- Residue 467
- a UniProt-annotated variant site (in imd77; decreased defense response to bacterium); a UniProt-annotated variant site (in); the 'p2' region
Similar variants
- MPEG1 p.Ala525Val Uncertain significance ★★ ⚠ same type
- MPEG1 p.Gln259Glu Uncertain significance ★★ ⚠ same type
- MPEG1 p.Gln713Arg Uncertain significance ★★ ⚠ same type
- MPEG1 p.His420Tyr Uncertain significance ★★ ⚠ same type
- MPEG1 p.Thr73Ala Likely benign ★★ same type
- MPEG1 p.Ala238Thr Uncertain significance ★ ⚠ same type
- MPEG1 p.Ala238Val Uncertain significance ★ ⚠ same type
- MPEG1 p.Ala240Val 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/mpeg1-p-ala467 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown