CCAR2 p.Arg336=
c.1008G>A · rs145783124 · VCV718862
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.181%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.414 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 6.6 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 19.15 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.181%
Middle Eastern · 11/6,062 alleles
Filtering AF
0.147%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.144%
Overall
0.13%
2,105/1,614,182 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.181% | 551 |
| South Asian | 0.165% | 607 |
| European (non-Finnish) | 0.152% | 656 |
| Remaining individualsnot grpmax-eligible | 0.096% | 1,042 |
| Admixed American | 0.075% | 1,334 |
| African / African-American | 0.0333% | 3,002 |
| Finnishnot grpmax-eligible | 0.0234% | 4,266 |
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
- CCAR2
- Protein
- p.Arg336=
- Coding
- c.1008G>A
- MANE Select
- NM_001393997
- dbSNP
- rs145783124
- Type
- single nucleotide variant
- Location
- chr8:22614470 (GRCh38)
- Gene constraint
- LOEUF 0.288 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.61 · 1 PDB
Similar variants
- CCAR2 p.Arg336Lys Uncertain significance ★ ⚠ same residue
- CCAR2 p.Ala388= Benign ★★ same type
- CCAR2 p.Ala794= Benign ★★ same type
- CCAR2 c.1990+1G>T Uncertain significance ★ same type
- CCAR2 c.2521+1G>A Uncertain significance ★ same type
- CCAR2 c.927+38G>C Uncertain significance ★ same type
- CCAR2 p.Ala214Ser Uncertain significance ★ ⚠ same type
- CCAR2 p.Ala293Gly 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/ccar2-p-arg336 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown