CFAP210 p.Ile397Arg
c.1190T>G · VCV3491222
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.017 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP 1.6, phastCons 1 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 48 kb · p 0.24 · regional, not allelic |
| Overall | ||
| CADD | 16.01 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
African / African-American · 10/74,682 alleles
Filtering AF
0.00725%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00551%
Overall
0.000744%
12/1,612,220 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0134% | 7,468 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,406 |
| European (non-Finnish) | 8.48e-05% | 1,179,558 |
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.Ile397Arg
- Coding
- c.1190T>G
- MANE Select
- NM_001085447
- Type
- single nucleotide variant
- Location
- chr2:169649309 (GRCh38)
- Structure
- AlphaFold pLDDT 81.20 · 2 PDB
- Residue 397
- the trichohyalin-plectin-homology domain
Similar variants
- CFAP210 p.Ile397Val Uncertain significance ★ same residue
- 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
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-ile397arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown