CMIP p.Thr711=
c.2133C>G · rs554858194 · VCV717423
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0101%, 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 1 | GERP -0.081, phastCons 1 |
| Overall | ||
| CADD | 9.502 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0101%
Admixed American · 6/59,690 alleles
Filtering AF
0.00792%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00745%
Overall
0.00783%
126/1,609,534 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0101% | 9,948 |
| European (non-Finnish) | 0.00942% | 10,618 |
| Remaining individualsnot grpmax-eligible | 0.00642% | 15,584 |
| African / African-American | 0.00533% | 18,751 |
| South Asian | 0.00111% | 90,140 |
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.Thr711=
- Coding
- c.2133C>G
- MANE Select
- NM_198390
- dbSNP
- rs554858194
- Type
- single nucleotide variant
- Location
- chr16:81705540 (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-thr711 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown