CFAP92 p.Gly504=
c.1512C>A · rs191574528 · VCV2654116
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.551%, amr)
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 -5.8 | GERP -3.6 |
| Overall | ||
| CADD | 0.157 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.551%
Admixed American · 271/49,178 alleles
Filtering AF
0.497%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.476%
Overall
0.0316%
480/1,521,128 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.551% | 181 |
| Remaining individualsnot grpmax-eligible | 0.059% | 1,694 |
| European (non-Finnish) | 0.0151% | 6,628 |
| African / African-American | 0.00275% | 36,342 |
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.Gly504=
- Coding
- c.1512C>A
- MANE Select
- NM_001394090
- dbSNP
- rs191574528
- Type
- single nucleotide variant
- Location
- chr3:128945817 (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-gly504 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown