CGN p.Ala357=
c.1071C>T · rs141884525 · VCV715850
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.757%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.037 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.41 | GERP -1.3 |
| Overall | ||
| CADD | 8.397 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.757%
African / African-American · 568/75,048 alleles
Filtering AF
0.705%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.685%
Overall
0.0653%
1,054/1,614,158 alleles · rare
exomes 675/1,461,862 · genomes 379/152,296 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.757% | 132 |
| Amishnot grpmax-eligible | 0.548% | 182 |
| East Asian | 0.51% | 196 |
| Remaining individualsnot grpmax-eligible | 0.144% | 695 |
| South Asian | 0.0791% | 1,265 |
| Middle Eastern | 0.066% | 1,516 |
| Admixed American | 0.0367% | 2,728 |
| European (non-Finnish) | 0.00542% | 18,438 |
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
- CGN
- Protein
- p.Ala357=
- Coding
- c.1071C>T
- MANE Select
- NM_020770
- dbSNP
- rs141884525
- Type
- single nucleotide variant
- Location
- chr1:151520622 (GRCh38)
- Gene constraint
- LOEUF 0.88 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.44
- Residue 357
- the 'head' region
Similar variants
- CGN p.Arg11Trp Likely benign ★★ same type
- CGN p.Arg227Trp Likely benign ★★ same type
- CGN p.Arg547Lys Benign ★★ same type
- CGN p.Arg973Gln Benign ★★ same type
- CGN p.Glu771Lys Benign/Likely benign ★★ same type
- CGN p.Ile60= Benign ★★ same type
- CGN p.Ala1035Thr Uncertain significance ★ same type
- CGN p.Ala142Val 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/cgn-p-ala357 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown