CARD19 p.Arg155Ser
c.463C>A · rs151113776 · VCV2569804
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0184%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.268 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 5.5 | GERP 0.18, phastCons 1 |
| Regional constraint | o/e 0.97 | unconstrained · MANE · 17 kb · p 0.69 · regional, not allelic |
| Overall | ||
| CADD | 25.5 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0184%
Admixed American · 11/59,622 alleles
Filtering AF
0.0149%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0142%
Overall
0.0137%
221/1,609,086 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0184% | 5,420 |
| European (non-Finnish) | 0.0168% | 5,948 |
| Remaining individualsnot grpmax-eligible | 0.0161% | 6,230 |
| African / African-American | 0.00267% | 37,420 |
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.Arg155Ser
- Coding
- c.463C>A
- MANE Select
- NM_032310
- dbSNP
- rs151113776
- Type
- single nucleotide variant
- Location
- chr9:93113018 (GRCh38)
- Gene constraint
- LOEUF 1.565 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 64.51 · 2 PDB
Similar variants
- CARD19 p.Ala83Asp Uncertain significance ★ ⚠ same type
- CARD19 p.Arg121Lys 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
- CARD19 p.Arg52Trp 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-arg155ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown