CGB1 p.Pro144Ser
c.430C>T · VCV3832622
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0022%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.051 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.14 | |
| Regional constraint | o/e 1.26 | unconstrained · MANE · 77 bp · p 0.13 · regional, not allelic |
| Overall | ||
| CADD | 0.459 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0022%
South Asian · 2/90,980 alleles
Filtering AF
0.000365%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000137%
Overall
0.000206%
3/1,459,782 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0022% | 45,490 |
| Admixed American | 0.00167% | 59,988 |
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
- CGB1
- Protein
- p.Pro144Ser
- Coding
- c.430C>T
- MANE Select
- NM_033377
- Type
- single nucleotide variant
- Location
- chr19:49035648 (GRCh38)
- Gene constraint
- LOEUF 1.532 · pLI 0.11 (gnomAD)
- Structure
- AlphaFold pLDDT 74.53
- Residue 144
- a disulfide bond
Similar variants
- CGB1 p.Pro144Ala Uncertain significance ★ same residue
- CGB1 p.Pro144Thr Uncertain significance ★ same residue
- CGB1 p.Pro144= Likely benign ★ same residue
- CGB1 p.Ala103Ser Uncertain significance ★ same type
- CGB1 p.Ala141Val Uncertain significance ★ same type
- CGB1 p.Ala18Thr Uncertain significance ★ same type
- CGB1 p.Ala35Val Uncertain significance ★ same type
- CGB1 p.Arg113His 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/cgb1-p-pro144ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown