CFAP410 p.Pro193=
c.579G>A · rs746856287 · VCV1161401
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0101%, amr)
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 0.005 | GERP -2.6 |
| Overall | ||
| CADD | 6.947 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0101%
Admixed American · 6/59,386 alleles
Filtering AF
0.00432%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00298%
Overall
0.00324%
52/1,602,512 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0101% | 9,898 |
| African / African-American | 0.00803% | 12,461 |
| South Asian | 0.00333% | 29,997 |
| European (non-Finnish) | 0.00298% | 33,517 |
| Remaining individualsnot grpmax-eligible | 0.00162% | 61,868 |
| Finnishnot grpmax-eligible | 0.0016% | 62,510 |
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
- CFAP410
- Protein
- p.Pro193=
- Coding
- c.579G>A
- MANE Select
- NM_004928
- dbSNP
- rs746856287
- Type
- single nucleotide variant
- Location
- chr21:44330886 (GRCh38)
- Gene constraint
- LOEUF 1.453 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.77 · 1 PDB
- Residue 193
- the 'disordered' region
Similar variants
- CFAP410 p.Pro193Leu Uncertain significance ★ ⚠ same residue
- CFAP410 c.545+1G>A Pathogenic ★★ same type
- CFAP410 c.642+2T>C Pathogenic ★★ same type
- CFAP410 c.643-1G>C Pathogenic ★★ same type
- CFAP410 c.643-23A>T Pathogenic/Likely pathogenic ★★ same type
- CFAP410 c.96+1G>A Pathogenic ★★ same type
- CFAP410 c.96+1G>T Pathogenic/Likely pathogenic ★★ same type
- CFAP410 p.Arg73Pro Pathogenic/Likely pathogenic ★★ ⚠ 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/cfap410-p-pro193 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown