CBARP p.Pro197=
c.591G>A · rs140226458 · VCV2648909
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.151%, 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 -6 | GERP -1.6 |
| Overall | ||
| CADD | 0.165 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.151%
Middle Eastern · 9/5,958 alleles
Filtering AF
0.0788%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.064%
Overall
0.0667%
1,073/1,608,274 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.151% | 662 |
| Finnishnot grpmax-eligible | 0.138% | 725 |
| Remaining individualsnot grpmax-eligible | 0.0835% | 1,197 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0817% | 1,223 |
| European (non-Finnish) | 0.0696% | 1,437 |
| Admixed American | 0.0574% | 1,743 |
| South Asian | 0.0401% | 2,491 |
| African / African-American | 0.0133% | 7,502 |
| East Asian | 0.00224% | 44,666 |
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
- CBARP
- Protein
- p.Pro197=
- Coding
- c.591G>A
- MANE Select
- NM_001393918
- dbSNP
- rs140226458
- Type
- single nucleotide variant
- Location
- chr19:1234607 (GRCh38)
- Gene constraint
- LOEUF 1.107 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 52.23
Similar variants
- CBARP p.Arg535= Likely benign ★★ same type
- CBARP c.1154+114C>G Uncertain significance ★ same type
- CBARP c.1154+126G>T Uncertain significance ★ same type
- CBARP c.1154+36C>G Uncertain significance ★ same type
- CBARP c.1154+45C>T Uncertain significance ★ same type
- CBARP c.1154+80G>A Uncertain significance ★ same type
- CBARP c.1154+87C>T Uncertain significance ★ same type
- CBARP p.Ala19Val 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/cbarp-p-pro197 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown