CFAP92 p.Pro931=
c.2793G>A · rs147348071 · VCV2654114
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.527%, afr)
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 -12 | GERP -3.4 |
| Overall | ||
| CADD | 0.126 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.527%
African / African-American · 340/64,492 alleles
Filtering AF
0.481%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.463%
Overall
0.0317%
391/1,232,064 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.527% | 190 |
| East Asian | 0.0599% | 1,668 |
| Middle Eastern | 0.0312% | 3,208 |
| Remaining individualsnot grpmax-eligible | 0.0218% | 4,579 |
| Admixed American | 0.00844% | 11,854 |
| South Asian | 0.00411% | 24,310 |
| European (non-Finnish) | 0.00182% | 54,887 |
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
- CFAP92
- Protein
- p.Pro931=
- Coding
- c.2793G>A
- MANE Select
- NM_001394090
- dbSNP
- rs147348071
- Type
- single nucleotide variant
- Location
- chr3:128916230 (GRCh38)
- Gene constraint
- LOEUF 0.959 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 57.39
Similar variants
- ACAD9 c.1692+1G>A Likely pathogenic ★★ same type
- ACAD9 p.Arg532Gln Likely pathogenic ★★ ⚠ same type
- ACAD9 p.Asn569His Uncertain significance ★★ ⚠ same type
- ACAD9 p.Glu596Lys Uncertain significance ★★ ⚠ same type
- ACAD9 c.1692+145G>C Benign ★★ same type
- ACAD9 c.*26C>T Benign/Likely benign ★★ same type
- ACAD9 c.*331T>G Benign/Likely benign ★★ same type
- ACAD9 c.*68C>T Benign/Likely 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/cfap92-p-pro931 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown