CFAP43 p.Phe324=
c.972T>C · rs11191947 · VCV3060048
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 12.6%, sas) — too common for a highly-penetrant pathogenic allele
Conditions
1
CFAP43-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>T here scores Δ0.24 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.069 | GERP -3.9 |
| Overall | ||
| CADD | 3.817 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
12.6%
South Asian · 11,171/88,382 alleles
Filtering AF
12.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 12.4%
Overall
5.7%
91,348/1,602,310 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 12.6% | 8 |
| Ashkenazi Jewishnot grpmax-eligible | 11.5% | 9 |
| East Asian | 9.24% | 11 |
| Middle Eastern | 6.92% | 14 |
| Remaining individualsnot grpmax-eligible | 6.65% | 15 |
| European (non-Finnish) | 5.22% | 19 |
| African / African-American | 4.28% | 23 |
| Admixed American | 4.22% | 24 |
| Finnishnot grpmax-eligible | 1.7% | 59 |
| Amishnot grpmax-eligible | 0.219% | 456 |
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
- CFAP43
- Protein
- p.Phe324=
- Coding
- c.972T>C
- MANE Select
- NM_025145
- dbSNP
- rs11191947
- Type
- single nucleotide variant
- Location
- chr10:104203795 (GRCh38)
- Gene constraint
- LOEUF 0.78 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.27 · 1 PDB
Disease context
CFAP43-related disorder
Similar variants
- CFAP43 p.Cys1591Arg Uncertain significance ⚠ same condition
- CFAP43 p.Ala738Thr Likely benign same condition
- CFAP43 p.Arg1378= Likely benign same condition
- CFAP43 p.Asp203= Likely benign same condition
- CFAP43 p.Gln1413= Likely benign same condition
- CFAP43 p.Gln1433= Benign same condition
- CFAP43 p.Ile343= Likely benign same condition
- CFAP43 p.Ile393Thr Benign ⚠ same condition
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/cfap43-p-phe324 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown