CIMIP2B p.Pro150=
c.450G>A · VCV4003101
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
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 -7.8 | GERP -3.6 |
| Overall | ||
| CADD | 0.381 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,062 alleles
Filtering AF
0.00437%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00312%
Overall
0.00144%
21/1,461,706 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,062 |
| South Asian | 0.00878% | 11,386 |
| Admixed American | 0.005% | 20,008 |
| East Asian | 0.00446% | 22,442 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,244 |
| European (non-Finnish) | 0.000424% | 235,982 |
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
- CIMIP2B
- Protein
- p.Pro150=
- Coding
- c.450G>A
- MANE Select
- NM_001164310
- Type
- single nucleotide variant
- Location
- chr9:35562917 (GRCh38)
- Structure
- AlphaFold pLDDT 68.93 · 2 PDB
- Residue 150
- the 'disordered' region
Similar variants
- CIMIP2B p.Pro150Leu Uncertain significance ★ ⚠ same residue
- RUSC2 p.Cys1328Tyr Uncertain significance ★★ ⚠ same type
- CIMIP2B p.Ala114Val Uncertain significance ★ ⚠ same type
- CIMIP2B p.Ala165Thr Uncertain significance ★ ⚠ same type
- CIMIP2B p.Ala190Thr Uncertain significance ★ ⚠ same type
- CIMIP2B p.Ala2Val Uncertain significance ★ ⚠ same type
- CIMIP2B p.Arg100Trp Uncertain significance ★ ⚠ same type
- CIMIP2B p.Arg176Trp 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/cimip2b-p-pro150 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown