CFAP97 p.Glu383=
c.1149G>A · rs116235300 · VCV780937
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.85%, 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 -0.75 | GERP -3.2, phastCons 0.008 |
| Overall | ||
| CADD | 5.025 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.85%
African / African-American · 1,385/74,986 alleles
Filtering AF
1.77%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.73%
Overall
0.121%
1,958/1,613,820 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.85% | 54 |
| Admixed American | 0.257% | 390 |
| Remaining individualsnot grpmax-eligible | 0.182% | 548 |
| Middle Eastern | 0.132% | 758 |
| South Asian | 0.0242% | 4,140 |
| European (non-Finnish) | 0.0233% | 4,290 |
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
- CFAP97
- Protein
- p.Glu383=
- Coding
- c.1149G>A
- MANE Select
- NM_020827
- dbSNP
- rs116235300
- Type
- single nucleotide variant
- Location
- chr4:185175957 (GRCh38)
- Gene constraint
- LOEUF 1.095 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 58.55
Similar variants
- CFAP97 p.Thr499Met Benign ★★ same type
- CFAP97 p.Ala152Gly Uncertain significance ★ ⚠ same type
- CFAP97 p.Ala448Thr Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg381Ser Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg389Gln Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg457His Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg479Trp Uncertain significance ★ ⚠ same type
- CFAP97 p.Arg508Gln Uncertain significance ★ ⚠ 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/cfap97-p-glu383 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown