MIB1 p.Ser751=
c.2253T>C · rs750404279 · VCV1788480
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00267%, afr)
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 -0.43 | GERP -2.5, phastCons 0.19 |
| Overall | ||
| CADD | 8.367 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,854 alleles
Filtering AF
0.000443%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000166%
Overall
0.00132%
2/152,030 alleles · very rare
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.Ser751=
- Coding
- c.2253T>C
- MANE Select
- NM_020774
- dbSNP
- rs750404279
- Type
- single nucleotide variant
- Location
- chr18:21846985 (GRCh38)
- Gene constraint
- LOEUF 1.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.09 · 6 PDB
- Residue 751
- an α-helix
Similar variants
- 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
- MIB1 p.Cys885Gly Uncertain significance ★★ ⚠ same condition
- MIB1 p.Gly802Asp 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-ser751 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown