CFAP298 p.Pro160=
c.480G>A · rs148839701 · VCV454925
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.207%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.038 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -16 | GERP -3.1 |
| Overall | ||
| CADD | 0.192 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.207%
East Asian · 93/44,874 alleles
Filtering AF
0.173%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.161%
Overall
0.00694%
112/1,614,126 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.207% | 483 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,417 |
| South Asian | 0.00329% | 30,363 |
| European (non-Finnish) | 0.000847% | 118,000 |
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.Pro160=
- Coding
- c.480G>A
- MANE Select
- NM_021254
- dbSNP
- rs148839701
- Type
- single nucleotide variant
- Location
- chr21:32604179 (GRCh38)
- Gene constraint
- LOEUF 1.267 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.54
Similar variants
- CFAP298 p.Pro160Leu 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-pro160 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown