CARD8 p.Val182Phe
c.544G>T · rs150982505 · VCV1080543
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.198%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.124 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.6 | GERP -0.66 |
| Regional constraint | o/e 0.86 | unconstrained · MANE · 29 kb · p 0.00022 · regional, not allelic |
| Overall | ||
| CADD | 3.244 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.198%
European (non-Finnish) · 2,332/1,179,068 alleles
Filtering AF
0.191%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.188%
Overall
0.158%
2,550/1,613,032 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.198% | 506 |
| Remaining individualsnot grpmax-eligible | 0.171% | 584 |
| Finnishnot grpmax-eligible | 0.089% | 1,123 |
| Admixed American | 0.05% | 2,000 |
| African / African-American | 0.0293% | 3,408 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,602 |
| South Asian | 0.0011% | 91,048 |
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
- CARD8
- Protein
- p.Val182Phe
- Coding
- c.544G>T
- MANE Select
- NM_001184900
- dbSNP
- rs150982505
- Type
- single nucleotide variant
- Location
- chr19:48231005 (GRCh38)
- Gene constraint
- LOEUF 0.883 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.42 · 5 PDB
- Residue 182
- a UniProt-annotated variant site (in ibd30); the fiind domain; a β-strand; the 'zu5' region
Similar variants
- CARD8 p.Val182Ile Uncertain significance ★ same residue
- CARD8 c.1035+5G>A Uncertain significance ★★ same type
- CARD8 p.Ala442Pro Uncertain significance ★★ same type
- CARD8 p.Ala97Val Uncertain significance ★★ same type
- CARD8 p.Arg103His Uncertain significance ★★ same type
- CARD8 p.Arg20Trp Uncertain significance ★★ same type
- CARD8 p.Arg304Gln Uncertain significance ★★ same type
- CARD8 p.Arg310Cys 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/card8-p-val182phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown