CARD10 p.Val1004=
c.3012G>C · rs1447230769 · VCV2653115
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -1.1 | GERP -3.1, phastCons 0.001 |
| Overall | ||
| CADD | 5.044 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
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
- CARD10
- Protein
- p.Val1004=
- Coding
- c.3012G>C
- MANE Select
- NM_014550
- dbSNP
- rs1447230769
- Type
- single nucleotide variant
- Location
- chr22:37491246 (GRCh38)
- Gene constraint
- LOEUF 0.678 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.22
Similar variants
- CARD10 p.Thr436Met Uncertain significance ★★ ⚠ same type
- CARD10 p.Ala382Thr Benign ★★ same type
- CARD10 p.Glu327= Likely benign ★★ same type
- CARD10 p.Ile940= Benign/Likely benign ★★ same type
- CARD10 p.Lys514Arg Benign ★★ same type
- CARD10 p.Thr383= Benign ★★ same type
- CARD10 p.Arg420Cys Likely pathogenic ★ ⚠ same type
- CARD10 c.2864+2T>G 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/card10-p-val1004 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown