CCAR2 p.Ala794=
c.2382T>C · rs17855313 · VCV776291
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.98%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.014 | strongly benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -5.3 | GERP -3.8 |
| Overall | ||
| CADD | 0.088 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.98%
African / African-American · 2,236/75,066 alleles
Filtering AF
2.88%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.83%
Overall
0.157%
2,539/1,614,036 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.98% | 34 |
| Remaining individualsnot grpmax-eligible | 0.242% | 414 |
| Middle Eastern | 0.231% | 433 |
| Admixed American | 0.16% | 625 |
| South Asian | 0.00878% | 11,386 |
| European (non-Finnish) | 0.00288% | 34,707 |
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.Ala794=
- Coding
- c.2382T>C
- MANE Select
- NM_001393997
- dbSNP
- rs17855313
- Type
- single nucleotide variant
- Location
- chr8:22618876 (GRCh38)
- Gene constraint
- LOEUF 0.288 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.61 · 1 PDB
- Residue 794
- the 'interaction with nr1d1' region
Similar variants
- CCAR2 p.Ala388= Benign ★★ same type
- CCAR2 p.Arg336= Likely 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
- CCAR2 p.Ala388Val 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-ala794 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown