Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.54%, afr)
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 -3.7 |
| Overall | ||
| CADD | 0.098 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.54%
African / African-American · 1,155/74,936 alleles
Filtering AF
1.47%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.44%
Overall
0.134%
2,153/1,611,506 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.54% | 65 |
| Middle Eastern | 0.976% | 102 |
| Remaining individualsnot grpmax-eligible | 0.237% | 421 |
| Admixed American | 0.213% | 470 |
| Ashkenazi Jewishnot grpmax-eligible | 0.157% | 638 |
| South Asian | 0.0594% | 1,685 |
| European (non-Finnish) | 0.0479% | 2,090 |
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
- CBR1
- Protein
- p.Thr197=
- Coding
- c.591G>A
- MANE Select
- NM_001757
- dbSNP
- rs2230191
- Type
- single nucleotide variant
- Location
- chr21:36072639 (GRCh38)
- Gene constraint
- LOEUF 1.419 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.88 · 6 PDB
- Residue 197
- a binding site; an α-helix
Similar variants
- CBR1 p.Thr197Met Uncertain significance ★ ⚠ same residue
- CBR1 p.Ala209Thr Uncertain significance ★ ⚠ same type
- CBR1 p.Ala255Val Uncertain significance ★ ⚠ same type
- CBR1 p.Ala52Val Uncertain significance ★ ⚠ same type
- CBR1 p.Arg119Gln Uncertain significance ★ ⚠ same type
- CBR1 p.Arg159Cys Uncertain significance ★ ⚠ same type
- CBR1 p.Arg159His Uncertain significance ★ ⚠ same type
- CBR1 p.Arg232Lys 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/cbr1-p-thr197 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown