CEMIP p.Pro1045=
c.3135G>A · rs202129485 · VCV3058070
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00833%, amr)
Conditions
1
CEMIP-related disorder
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 -11 | GERP -5.5 |
| Overall | ||
| CADD | 0.365 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00833%
Admixed American · 5/60,018 alleles
Filtering AF
0.00323%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00206%
Overall
0.00217%
35/1,614,130 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00833% | 12,004 |
| African / African-American | 0.00533% | 18,763 |
| East Asian | 0.00446% | 22,440 |
| European (non-Finnish) | 0.00203% | 49,168 |
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
- CEMIP
- Protein
- p.Pro1045=
- Coding
- c.3135G>A
- MANE Select
- NM_001293298
- dbSNP
- rs202129485
- Type
- single nucleotide variant
- Location
- chr15:80936799 (GRCh38)
- Gene constraint
- LOEUF 0.764 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.69
Disease context
CEMIP-related disorder
Similar variants
- CEMIP p.Pro1045Arg Uncertain significance ★ ⚠ same residue
- CEMIP c.241+8A>G Likely benign same condition
- CEMIP p.Ala463Thr Likely benign ⚠ same condition
- CEMIP p.Asp929= Benign same condition
- CEMIP p.Ile194= Likely benign same condition
- CEMIP p.Ile478= Likely benign same condition
- CEMIP p.Leu107= Likely benign same condition
- CEMIP p.Leu1138= Likely benign 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/cemip-p-pro1045 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown