CCAR2 p.Pro11=
c.33G>A · rs150400388 · VCV3051469
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.237%, afr)
Conditions
1
CCAR2-related disorder
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 -0.48 | GERP -5.5, phastCons 0.001 |
| Overall | ||
| CADD | 9.639 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.237%
African / African-American · 178/75,048 alleles
Filtering AF
0.209%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.198%
Overall
0.0117%
189/1,613,988 alleles · rare
exomes 85/1,461,678 · genomes 104/152,310 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.237% | 422 |
| Admixed American | 0.00833% | 12,002 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,625 |
| European (non-Finnish) | 0.00017% | 589,971 |
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.Pro11=
- Coding
- c.33G>A
- MANE Select
- NM_001393997
- dbSNP
- rs150400388
- Type
- single nucleotide variant
- Location
- chr8:22605806 (GRCh38)
- Gene constraint
- LOEUF 0.288 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.61 · 1 PDB
- Residue 11
- the 'disordered' region
Disease context
CCAR2-related disorder
Similar variants
- CCAR2 c.150+8C>G Benign same condition
- CCAR2 c.1609-5A>G Benign same condition
- CCAR2 c.2522-3C>T Likely benign same condition
- CCAR2 p.Ala406= Benign same condition
- CCAR2 p.Ala819= Benign same condition
- CCAR2 p.Arg418Gln Likely benign same condition
- CCAR2 p.Asp292= Likely benign same condition
- CCAR2 p.Asp372= Likely benign same condition
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-pro11 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown