CELA2B p.His232=
c.696T>C · rs61742388 · VCV782359
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.87%, 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 -20 | GERP -3.7 |
| Overall | ||
| CADD | 0.012 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.87%
African / African-American · 2,903/75,056 alleles
Filtering AF
3.75%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.7%
Overall
0.459%
7,404/1,614,218 alleles · low-frequency
exomes 5,270/1,461,880 · genomes 2,134/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.87% | 26 |
| Finnishnot grpmax-eligible | 0.998% | 100 |
| East Asian | 0.501% | 199 |
| Admixed American | 0.473% | 211 |
| Remaining individualsnot grpmax-eligible | 0.464% | 216 |
| Middle Eastern | 0.297% | 337 |
| European (non-Finnish) | 0.244% | 410 |
| Ashkenazi Jewishnot grpmax-eligible | 0.176% | 569 |
| South Asian | 0.128% | 779 |
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
- CELA2B
- Protein
- p.His232=
- Coding
- c.696T>C
- MANE Select
- NM_015849
- dbSNP
- rs61742388
- Type
- single nucleotide variant
- Location
- chr1:15487341 (GRCh38)
- Gene constraint
- LOEUF 0.987 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.37
- Residue 232
- the peptidase s1 domain
Similar variants
- CELA2B p.Ala128Thr Uncertain significance ★ ⚠ same type
- CELA2B p.Ala14Val Uncertain significance ★ ⚠ same type
- CELA2B p.Ala203Pro Uncertain significance ★ ⚠ same type
- CELA2B p.Arg228Trp Uncertain significance ★ same type
- CELA2B p.Asn129Lys Uncertain significance ★ ⚠ same type
- CELA2B p.Asp226Val Uncertain significance ★ same type
- CELA2B p.Asp25Val Uncertain significance ★ ⚠ same type
- CELA2B p.Asp260Asn 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/cela2b-p-his232 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown