CFAP410 p.Asp228=
c.684T>C · rs11552068 · VCV259588
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 12.4%, afr) — too common for a highly-penetrant pathogenic allele
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 0.79 | GERP -2.6, phastCons 0.17 |
| Overall | ||
| CADD | 3.555 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
12.4%
African / African-American · 9,332/74,982 alleles
Filtering AF
12.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 12.1%
Overall
0.915%
14,721/1,609,542 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 12.4% | 8 |
| Admixed American | 4.34% | 23 |
| East Asian | 2.37% | 42 |
| Middle Eastern | 1.5% | 67 |
| Remaining individualsnot grpmax-eligible | 1.5% | 67 |
| Finnishnot grpmax-eligible | 0.461% | 217 |
| South Asian | 0.12% | 831 |
| European (non-Finnish) | 0.0265% | 3,767 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00339% | 29,530 |
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.Asp228=
- Coding
- c.684T>C
- MANE Select
- NM_004928
- dbSNP
- rs11552068
- Type
- single nucleotide variant
- Location
- chr21:44330285 (GRCh38)
- Gene constraint
- LOEUF 1.453 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.77 · 1 PDB
Similar variants
- CFAP410 p.Asp228fs 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-asp228 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown