CD209 p.Ala357=
c.1071G>A · rs35545365 · VCV780521
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.81%, 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 -8.9 | GERP -3.1 |
| Overall | ||
| CADD | 7.337 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.81%
African / African-American · 2,107/75,006 alleles
Filtering AF
2.71%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.67%
Overall
0.154%
2,487/1,614,134 alleles · low-frequency
exomes 1,252/1,461,866 · genomes 1,235/152,268 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.81% | 36 |
| Remaining individualsnot grpmax-eligible | 0.248% | 403 |
| Admixed American | 0.24% | 417 |
| Middle Eastern | 0.132% | 758 |
| South Asian | 0.00988% | 10,120 |
| 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
- CD209
- Protein
- p.Ala357=
- Coding
- c.1071G>A
- MANE Select
- NM_021155
- dbSNP
- rs35545365
- Type
- single nucleotide variant
- Location
- chr19:7743183 (GRCh38)
- Gene constraint
- LOEUF 0.946 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.95 · 16 PDB
- Residue 357
- the c-type lectin domain; a β-strand
Similar variants
- CD209 p.Gln189Leu Uncertain significance ★★ ⚠ same type
- CD209 p.Glu214Asp Uncertain significance ★★ ⚠ same type
- CD209 p.Ala395= Benign ★★ same type
- CD209 p.Asp331= Benign ★★ same type
- CD209 p.Ala132Ser Uncertain significance ★ ⚠ same type
- CD209 p.Ala202Val Uncertain significance ★ ⚠ same type
- CD209 p.Asp75Gly Uncertain significance ★ ⚠ same type
- CD209 p.Cys284Ser 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/cd209-p-ala357 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown