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MPG p.Asp31=

c.93C>T · rs2266605 · VCV787967

Benign Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.86%, 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
CADD7.641PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes
Grpmax group 1.86% African / African-American · 1,394/74,966 alleles
Filtering AF 1.78% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.75%
Overall 0.108% 1,744/1,612,700 alleles · low-frequency exomes 924/1,460,574 · genomes 820/152,126 · joint denominator
Ancestry group Frequency 1 in
African / African-Americangrpmax 1.86% 54
South Asian 0.181% 552
Admixed American 0.14% 714
Remaining individualsnot grpmax-eligible 0.126% 791
Middle Eastern 0.033% 3,031
European (non-Finnish) 0.0017% 58,990

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
MPG
Protein
p.Asp31=
Coding
c.93C>T
MANE Select
NM_001015052
dbSNP
rs2266605
Type
single nucleotide variant
Location
chr16:79493 (GRCh38)
Gene constraint
LOEUF 1.468 · pLI <0.01 (gnomAD)
Structure
AlphaFold pLDDT 82.08 · 9 PDB
Residue 31
the 'disordered' region
Full MPG gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

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/mpg-p-asp31 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown