CTRB1 p.Ala144=
c.432C>T · VCV4534015
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.111%, eas)
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 -20 | GERP -3.4 |
| Overall | ||
| CADD | 3.229 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.111%
East Asian · 36/32,568 alleles
Filtering AF
0.082%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0722%
Overall
0.0116%
73/627,120 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.111% | 905 |
| South Asian | 0.0225% | 4,437 |
| European (non-Finnish) | 0.00623% | 16,051 |
| Remaining individualsnot grpmax-eligible | 0.00334% | 29,946 |
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
- CTRB1
- Protein
- p.Ala144=
- Coding
- c.432C>T
- MANE Select
- NM_001906
- Type
- single nucleotide variant
- Location
- chr16:75223564 (GRCh38)
- Gene constraint
- LOEUF 1.902 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.90
- Residue 144
- the peptidase s1 domain
Similar variants
- CTRB1 p.Ala144Thr Uncertain significance ★ ⚠ same residue
- CTRB1 p.Ala104Asp Uncertain significance ★ ⚠ same type
- CTRB1 p.Ala138Thr Uncertain significance ★ ⚠ same type
- CTRB1 p.Ala150Ser Uncertain significance ★ ⚠ same type
- CTRB1 p.Ala177Val Uncertain significance ★ ⚠ same type
- CTRB1 p.Ala261Val Uncertain significance ★ ⚠ same type
- CTRB1 p.Ala40Thr Uncertain significance ★ ⚠ same type
- CTRB1 p.Arg131Cys 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/ctrb1-p-ala144 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown