CPQ p.Arg329=
c.985C>A · rs79424797 · VCV777421
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.2%, afr)
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 4.9 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 11.52 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.2%
African / African-American · 1,649/74,932 alleles
Filtering AF
2.11%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.08%
Overall
0.123%
1,976/1,607,470 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.2% | 45 |
| Remaining individualsnot grpmax-eligible | 0.209% | 478 |
| Middle Eastern | 0.166% | 602 |
| Admixed American | 0.143% | 698 |
| European (non-Finnish) | 0.00807% | 12,386 |
| South Asian | 0.00668% | 14,966 |
| East Asian | 0.00223% | 44,788 |
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
- CPQ
- Protein
- p.Arg329=
- Coding
- c.985C>A
- MANE Select
- NM_016134
- dbSNP
- rs79424797
- Type
- single nucleotide variant
- Location
- chr8:97029426 (GRCh38)
- Gene constraint
- LOEUF 1.077 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.81
Similar variants
- CPQ p.Arg329Gln Uncertain significance ★ ⚠ same residue
- CPQ p.Ile139Thr Uncertain significance ★★ ⚠ same type
- CPQ p.Ile204Val Benign ★★ ⚠ same type
- CPQ p.Leu151Pro Benign ★★ same type
- CPQ p.Leu330= Benign ★★ same type
- CPQ p.Ser138Asn Benign ★★ same type
- CPQ p.Tyr92Asp Benign ★★ ⚠ same type
- CPQ p.Ala131Thr 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/cpq-p-arg329 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown