CTRB2 p.Leu141=
c.423G>A · rs573232574 · VCV787983
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.15%, 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 0.094 | GERP -1.6, phastCons 0.6 |
| Overall | ||
| CADD | 6.288 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.15%
African / African-American · 282/13,130 alleles
Filtering AF
1.94%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.86%
Overall
0.072%
327/454,040 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.15% | 47 |
| Remaining individualsnot grpmax-eligible | 0.0974% | 1,026 |
| Admixed American | 0.0833% | 1,200 |
| South Asian | 0.00711% | 14,058 |
| European (non-Finnish) | 0.000354% | 282,508 |
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
- CTRB2
- Protein
- p.Leu141=
- Coding
- c.423G>A
- MANE Select
- NM_001025200
- dbSNP
- rs573232574
- Type
- single nucleotide variant
- Location
- chr16:75205406 (GRCh38)
- Gene constraint
- LOEUF 1.168 · pLI 0.36 (gnomAD)
- Structure
- AlphaFold pLDDT 91.79
- Residue 141
- the peptidase s1 domain
Similar variants
- CTRB2 p.Ala11Thr Uncertain significance ★ ⚠ same type
- CTRB2 p.Ala138Thr Uncertain significance ★ ⚠ same type
- CTRB2 p.Ala244Thr Uncertain significance ★ ⚠ same type
- CTRB2 p.Arg131His Uncertain significance ★ ⚠ same type
- CTRB2 p.Arg236Cys Uncertain significance ★ ⚠ same type
- CTRB2 p.Arg236His Uncertain significance ★ ⚠ same type
- CTRB2 p.Arg248Cys Uncertain significance ★ ⚠ same type
- CTRB2 p.Asn167Tyr 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/ctrb2-p-leu141 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown