CARD19 p.Ala48=
c.144G>A · rs146233245 · VCV2659308
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.901%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.21 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -9.4 | GERP -3 |
| Overall | ||
| CADD | 2.959 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.901%
South Asian · 821/91,088 alleles
Filtering AF
0.85%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.83%
Overall
0.0743%
1,200/1,614,230 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.901% | 111 |
| Ashkenazi Jewishnot grpmax-eligible | 0.287% | 348 |
| Admixed American | 0.0966% | 1,035 |
| Remaining individualsnot grpmax-eligible | 0.0688% | 1,454 |
| Middle Eastern | 0.066% | 1,516 |
| African / African-American | 0.016% | 6,256 |
| European (non-Finnish) | 0.0149% | 6,705 |
| East Asian | 0.00223% | 44,884 |
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
- CARD19
- Protein
- p.Ala48=
- Coding
- c.144G>A
- MANE Select
- NM_032310
- dbSNP
- rs146233245
- Type
- single nucleotide variant
- Location
- chr9:93107810 (GRCh38)
- Gene constraint
- LOEUF 1.565 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.51 · 2 PDB
- Residue 48
- the card domain; a disulfide bond; an α-helix
Similar variants
- CARD19 p.Ala83Asp Uncertain significance ★ ⚠ same type
- CARD19 p.Arg121Lys Uncertain significance ★ same type
- CARD19 p.Arg155Ser Uncertain significance ★ same type
- CARD19 p.Arg166Thr Uncertain significance ★ same type
- CARD19 p.Arg170His Uncertain significance ★ same type
- CARD19 p.Arg170Pro Uncertain significance ★ same type
- CARD19 p.Arg22Cys Uncertain significance ★ ⚠ same type
- CARD19 p.Arg52Gln 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/card19-p-ala48 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown