MIB1 p.Pro783=
c.2349G>A · rs763044685 · VCV3227417
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0267%, amr)
Conditions
1
Inborn genetic diseases
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 1.2 | GERP 0.25, phastCons 1 |
| Overall | ||
| CADD | 12.35 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0267%
Admixed American · 16/59,998 alleles
Filtering AF
0.0166%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0136%
Overall
0.00124%
20/1,614,004 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0267% | 3,750 |
| South Asian | 0.0011% | 91,080 |
| European (non-Finnish) | 0.000254% | 393,340 |
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
- MIB1
- Protein
- p.Pro783=
- Coding
- c.2349G>A
- MANE Select
- NM_020774
- dbSNP
- rs763044685
- Type
- single nucleotide variant
- Location
- chr18:21847081 (GRCh38)
- Gene constraint
- LOEUF 1.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.09 · 6 PDB
- Residue 783
- an α-helix
Similar variants
- MIB1 p.Pro783Leu Uncertain significance ★ ⚠ same residue
- MIB1 p.Pro783Ser Uncertain significance ★ ⚠ same residue
- MIB1 p.Ala148Ser Uncertain significance ★★ ⚠ same condition
- MIB1 p.Ala570Val Uncertain significance ★★ ⚠ same condition
- MIB1 p.Asn432Ser Uncertain significance ★★ ⚠ same condition
- MIB1 p.Asn441Ser Uncertain significance ★★ ⚠ same condition
- MIB1 p.Asn656Ser Uncertain significance ★★ ⚠ same condition
- MIB1 p.Asn656Thr Uncertain significance ★★ ⚠ same condition
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/mib1-p-pro783 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown