CFAP43 p.Gly320=
c.960A>C · rs555490433 · VCV718452
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.108%, sas)
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 · T>A here scores Δ0.96 · evaluated, not missing |
|---|---|---|
| Pangolin | Δ0.21 | loss · gain 0.04 · SpliceAI below 0.2 · independent |
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 14.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.108%
South Asian · 96/88,670 alleles
Filtering AF
0.0907%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0841%
Overall
0.0164%
263/1,606,204 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.108% | 924 |
| Admixed American | 0.0781% | 1,281 |
| Middle Eastern | 0.0673% | 1,487 |
| Remaining individualsnot grpmax-eligible | 0.0257% | 3,889 |
| European (non-Finnish) | 0.00823% | 12,145 |
| African / African-American | 0.00671% | 14,904 |
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.Gly320=
- Coding
- c.960A>C
- MANE Select
- NM_025145
- dbSNP
- rs555490433
- Type
- single nucleotide variant
- Location
- chr10:104205966 (GRCh38)
- Gene constraint
- LOEUF 0.78 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.27 · 1 PDB
Similar variants
- CFAP43 p.Gly320Arg Uncertain significance ★ ⚠ same residue
- CFAP43 p.Arg894Ter Pathogenic/Likely pathogenic ★★ same type
- CFAP43 p.Thr1075Lys Uncertain significance ★★ ⚠ same type
- CFAP43 c.2142-4A>G Benign ★★ same type
- CFAP43 p.Glu1540Gly Benign/Likely benign ★★ same type
- CFAP43 p.Leu1542Val Benign/Likely benign ★★ same type
- CFAP43 p.Leu616Phe Benign ★★ ⚠ same type
- CFAP43 p.Leu802= 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/cfap43-p-gly320 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown