C1QBP p.Cys71=
c.213C>T · VCV4763141
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00552%, 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 2.2 | phastCons 1 |
| Overall | ||
| CADD | 12.4 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00552%
African / African-American · 4/72,516 alleles
Filtering AF
0.00179%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00107%
Overall
0.000259%
4/1,545,566 alleles · very rare
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
- C1QBP
- Protein
- p.Cys71=
- Coding
- c.213C>T
- MANE Select
- NM_001212
- Type
- single nucleotide variant
- Location
- chr17:5438861 (GRCh38)
- Gene constraint
- LOEUF 1.155 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.12 · 4 PDB
Similar variants
- C1QBP p.Cys71Trp Uncertain significance ★ ⚠ same residue
- C1QBP p.Phe204Leu Pathogenic/Likely pathogenic ★★ same type
- C1QBP p.Ala81Gly Uncertain significance ★★ ⚠ same type
- C1QBP p.Asn134Ser Uncertain significance ★★ ⚠ same type
- C1QBP p.Glu196Asp Uncertain significance ★★ ⚠ same type
- C1QBP p.Glu93Asp Uncertain significance ★★ ⚠ same type
- C1QBP p.Lys179Thr Uncertain significance ★★ ⚠ same type
- C1QBP p.Pro149Ser 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/c1qbp-p-cys71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown