CARD9 p.Gly485Ala
c.1454G>C · rs2538651834 · VCV3137347
Computational evidence
| Protein change | ||
| AlphaMissense | 0.0914 | likely benign |
|---|---|---|
| REVEL | 0.12 | moderately benign-leaning |
| SaProt | LLR -6.01 | tolerated |
| ⇒ AlphaMissense, REVEL and SaProt all call this tolerated. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.6 | GERP 1.2, phastCons 1 |
| Regional constraint | o/e 1.03 | unconstrained · MANE · 7,773 bp · p 0.34 · regional, not allelic |
| Overall | ||
| CADD | 19.18 | PHRED · no single calibrated threshold — expert panels disagree |
ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CARD9
- Protein
- p.Gly485Ala
- Coding
- c.1454G>C
- MANE Select
- NM_052813
- dbSNP
- rs2538651834
- Type
- single nucleotide variant
- Location
- chr9:136364540 (GRCh38)
- Gene constraint
- LOEUF 1.143 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.24 · 8 PDB
- Residue 485
- the 'disordered' region; a UniProt-annotated variant site (in imd103; reduced cytokine production in response to c.albicans infection; impaired nf-kappa-b transcriptional activity); a UniProt-annotated variant site (in imd103; decreased production of cytokines in cd4(+) th17 cells); a UniProt-annotated variant site (in imd103; reduced production igg antibodies in response to c.albicans infection); a UniProt-annotated variant site (in imd103; reduced cytokine production in response to c.albicans infection)
Similar variants
- CARD9 p.Ala109Val Uncertain significance ★★ ⚠ same condition
- CARD9 p.Ala190Val Uncertain significance ★★ ⚠ same condition
- CARD9 p.Ala198Thr Uncertain significance ★★ ⚠ same condition
- CARD9 p.Ala369Thr Uncertain significance ★★ ⚠ same condition
- CARD9 p.Ala392Val Uncertain significance ★★ ⚠ same condition
- CARD9 p.Arg173Cys Uncertain significance ★★ ⚠ same condition
- CARD9 p.Arg241Trp Uncertain significance ★★ ⚠ same condition
- CARD9 p.Arg315Leu Uncertain significance ★★ ⚠ same condition
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/card9-p-gly485ala (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown