CFAP65 p.Ile1814=
c.5442C>T · rs139829270 · VCV775818
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.36%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5 | GERP -3.1 |
| Overall | ||
| CADD | 0.049 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.36%
African / African-American · 1,022/75,012 alleles
Filtering AF
1.29%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.27%
Overall
0.0704%
1,137/1,613,976 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.36% | 73 |
| Remaining individualsnot grpmax-eligible | 0.08% | 1,250 |
| Admixed American | 0.0783% | 1,277 |
| Middle Eastern | 0.033% | 3,031 |
| East Asian | 0.00669% | 14,959 |
| South Asian | 0.00329% | 30,357 |
| Finnishnot grpmax-eligible | 0.00156% | 63,914 |
| European (non-Finnish) | 0.000763% | 131,112 |
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
- CFAP65
- Protein
- p.Ile1814=
- Coding
- c.5442C>T
- dbSNP
- rs139829270
- Type
- single nucleotide variant
- Location
- chr2:219004065 (GRCh38)
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/cfap65-p-ile1814 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown