CFAP210 p.Gln287Arg
c.860A>G · rs367772135 · VCV3143386
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0214%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.067 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.2 | GERP 1.7 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 48 kb · p 0.24 · regional, not allelic |
| Overall | ||
| CADD | 12.53 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0214%
African / African-American · 16/74,794 alleles
Filtering AF
0.0133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0109%
Overall
0.00144%
23/1,596,126 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0214% | 4,675 |
| Remaining individualsnot grpmax-eligible | 0.00971% | 10,296 |
| Admixed American | 0.00174% | 57,366 |
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
- CFAP210
- Protein
- p.Gln287Arg
- Coding
- c.860A>G
- MANE Select
- NM_001085447
- dbSNP
- rs367772135
- Type
- single nucleotide variant
- Location
- chr2:169654174 (GRCh38)
- Structure
- AlphaFold pLDDT 81.20 · 2 PDB
- Residue 287
- the trichohyalin-plectin-homology domain
Similar variants
- CFAP210 p.Ala196Thr Uncertain significance ★ same type
- CFAP210 p.Ala349Gly Uncertain significance ★ same type
- CFAP210 p.Ala372Gly Uncertain significance ★ same type
- CFAP210 p.Ala382Val Uncertain significance ★ same type
- CFAP210 p.Ala405Val Uncertain significance ★ same type
- CFAP210 p.Ala446Glu Uncertain significance ★ same type
- CFAP210 p.Ala462Thr Uncertain significance ★ same type
- CFAP210 p.Arg111His 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/cfap210-p-gln287arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown