CFAP298 p.Arg200=
c.598A>C · rs778634463 · VCV746394
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000254%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.143 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP 0.18, phastCons 0.98 |
| Overall | ||
| CADD | 9.752 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000254%
European (non-Finnish) · 3/1,180,016 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000186%
3/1,614,238 alleles · very rare
exomes 3/1,461,856 · genomes 0/152,382 · joint denominator
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
- CFAP298
- Protein
- p.Arg200=
- Coding
- c.598A>C
- MANE Select
- NM_021254
- dbSNP
- rs778634463
- Type
- single nucleotide variant
- Location
- chr21:32603229 (GRCh38)
- Gene constraint
- LOEUF 1.267 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.54
Similar variants
- CFAP298 p.Arg200del Uncertain significance ★ same residue
- CFAP298 p.Arg98Ter Pathogenic/Likely pathogenic ★★ same type
- CFAP298 p.Gln225Ter Pathogenic ★★ same type
- CFAP298 p.Asp141Gly Uncertain significance ★★ ⚠ same type
- CFAP298 p.Gln225Arg Uncertain significance ★★ ⚠ same type
- CFAP298 p.Gly80Ser Uncertain significance ★★ ⚠ same type
- CFAP298 c.308-16C>G Benign ★★ same type
- CFAP298 c.375+15A>G Likely benign ★★ 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/cfap298-p-arg200 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown