CGB5 p.Pro24=
c.72G>A · rs62126048 · VCV769980
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 29.6%, amr) — too common for a highly-penetrant pathogenic allele
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 -2.2 | |
| Overall | ||
| CADD | 0.607 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
29.6%
Admixed American · 17,245/58,168 alleles
Filtering AF
29.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 29.1%
Overall
22.9%
360,710/1,575,550 alleles · common
exomes 331,216/1,432,104 · genomes 29,494/143,446 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 29.6% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 27.8% | 4 |
| South Asian | 24.6% | 4 |
| European (non-Finnish) | 23.5% | 4 |
| Remaining individualsnot grpmax-eligible | 22.3% | 4 |
| Amishnot grpmax-eligible | 21.1% | 5 |
| Middle Eastern | 18.4% | 5 |
| Finnishnot grpmax-eligible | 16.2% | 6 |
| African / African-American | 14.4% | 7 |
| East Asian | 14.2% | 7 |
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
- CGB5
- Protein
- p.Pro24=
- Coding
- c.72G>A
- MANE Select
- NM_033043
- dbSNP
- rs62126048
- Type
- single nucleotide variant
- Location
- chr19:49044633 (GRCh38)
- Gene constraint
- LOEUF 0.984 · pLI 0.49 (gnomAD)
- Structure
- AlphaFold pLDDT 79.10 · 6 PDB
- Residue 24
- a UniProt-annotated variant site (requires 2 nucleotide substitutions)
Similar variants
- CGB5 p.Tyr102= Likely benign ★★ same type
- CGB5 p.Ala143Gly Uncertain significance ★ same type
- CGB5 p.Arg114Cys Uncertain significance ★ same type
- CGB5 p.Arg26Gln Uncertain significance ★ same type
- CGB5 p.Arg28Gln Uncertain significance ★ same type
- CGB5 p.Arg30His Uncertain significance ★ same type
- CGB5 p.Arg83Ser Uncertain significance ★ same type
- CGB5 p.Arg88Pro 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/cgb5-p-pro24 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown