CFAP210 p.Asp455=
c.1365T>C · VCV3898143
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.324%, nfe)
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 -0.57 | GERP -1.9, phastCons 0.001 |
| Overall | ||
| CADD | 4.784 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.324%
European (non-Finnish) · 3,824/1,179,598 alleles
Filtering AF
0.316%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.312%
Overall
0.254%
4,106/1,613,434 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.324% | 308 |
| Remaining individualsnot grpmax-eligible | 0.245% | 408 |
| Admixed American | 0.0818% | 1,223 |
| African / African-American | 0.0533% | 1,875 |
| Finnishnot grpmax-eligible | 0.0516% | 1,939 |
| Middle Eastern | 0.033% | 3,031 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,795 |
| South Asian | 0.00329% | 30,350 |
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.Asp455=
- Coding
- c.1365T>C
- MANE Select
- NM_001085447
- Type
- single nucleotide variant
- Location
- chr2:169646135 (GRCh38)
- Structure
- AlphaFold pLDDT 81.20 · 2 PDB
- Residue 455
- 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-asp455 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown