CFAP92 p.Cys75Phe
c.224G>T · VCV4653006
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3761 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3761 | ambiguous |
|---|---|---|
| REVEL | 0.292 | indeterminate |
| SaProt | LLR -6.29 | tolerated |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4.4 | GERP 1.1, phastCons 1 |
| Regional constraint | o/e 0.94 | unconstrained · MANE · 83 kb · p 0.026 · regional, not allelic |
| Overall | ||
| CADD | 22.9 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- CFAP92
- Protein
- p.Cys75Phe
- Coding
- c.224G>T
- MANE Select
- NM_001394090
- Type
- single nucleotide variant
- Location
- chr3:128993081 (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-cys75phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown