CMIP p.Pro362=
c.1086G>A · rs375947777 · VCV756352
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00835%, amr)
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 -4.8 | GERP -4.2 |
| Overall | ||
| CADD | 5.507 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00835%
Admixed American · 5/59,912 alleles
Filtering AF
0.00324%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00207%
Overall
0.00205%
33/1,610,348 alleles · very rare
exomes 27/1,458,036 · genomes 6/152,312 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00835% | 11,982 |
| South Asian | 0.0066% | 15,162 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,169 |
| East Asian | 0.00223% | 44,824 |
| European (non-Finnish) | 0.00161% | 61,996 |
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
- CMIP
- Protein
- p.Pro362=
- Coding
- c.1086G>A
- MANE Select
- NM_198390
- dbSNP
- rs375947777
- Type
- single nucleotide variant
- Location
- chr16:81678326 (GRCh38)
- Gene constraint
- LOEUF 0.189 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 79.52
Similar variants
- CMIP c.1638+10G>A Likely benign ★★ same type
- CMIP c.2269-10C>T Benign/Likely benign ★★ same type
- CMIP p.Asn295= Benign ★★ same type
- CMIP p.Leu369= Likely benign ★★ same type
- CMIP p.Pro414= Benign ★★ same type
- CMIP p.Val547= Benign ★★ same type
- CMIP c.1035-1G>A Uncertain significance ★ same type
- CMIP p.Ala113Thr 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/cmip-p-pro362 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown