CFAP298 p.Ala130=
c.390C>T · rs773240777 · VCV413307
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.116%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.03 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.21 | GERP -2.4 |
| Overall | ||
| CADD | 6.108 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.116%
Middle Eastern · 7/6,060 alleles
Filtering AF
0.0542%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0384%
Overall
0.0052%
84/1,614,008 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.116% | 866 |
| East Asian | 0.0134% | 7,476 |
| European (non-Finnish) | 0.00576% | 17,353 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,254 |
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.Ala130=
- Coding
- c.390C>T
- MANE Select
- NM_021254
- dbSNP
- rs773240777
- Type
- single nucleotide variant
- Location
- chr21:32604269 (GRCh38)
- Gene constraint
- LOEUF 1.267 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.54
Similar variants
- 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
- CFAP298 c.376-20C>T 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-ala130 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown