CFAP57 p.Ser614=
c.1842G>A · rs143009991 · VCV2638741
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.824%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -12 | GERP -3.7 |
| Overall | ||
| CADD | 0.067 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.824%
African / African-American · 618/75,038 alleles
Filtering AF
0.77%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.748%
Overall
0.0503%
812/1,614,180 alleles · rare
exomes 462/1,461,870 · genomes 350/152,310 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.824% | 121 |
| Remaining individualsnot grpmax-eligible | 0.0848% | 1,179 |
| Admixed American | 0.0616% | 1,622 |
| South Asian | 0.011% | 9,108 |
| European (non-Finnish) | 0.00797% | 12,554 |
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
- CFAP57
- Protein
- p.Ser614=
- Coding
- c.1842G>A
- MANE Select
- NM_001378189
- dbSNP
- rs143009991
- Type
- single nucleotide variant
- Location
- chr1:43209829 (GRCh38)
- Gene constraint
- LOEUF 0.92 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.57 · 1 PDB
- Residue 614
- a UniProt-annotated variant site (found in a patient with primary ciliary dyskinesia; uncertain significance; loss of location to ciliary axoneme; reduced beat frequency)
Similar variants
- CFAP57 p.Ser614Leu Benign ★ ⚠ same residue
- CFAP57 p.Gln125Arg Likely benign ★★ ⚠ same type
- CFAP57 p.Ile322Met Likely benign ★★ same type
- CFAP57 p.Arg411Ter Likely pathogenic ★ same type
- CFAP57 p.Arg958Ter Pathogenic ★ same type
- CFAP57 c.1929+122A>C Uncertain significance ★ same type
- CFAP57 c.1929+139C>A Uncertain significance ★ same type
- CFAP57 c.1929+154A>T Uncertain significance ★ 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/cfap57-p-ser614 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown