CFAP65 p.Arg1231=
c.3693C>T · rs57772693 · VCV791890
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.97%, 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 -8.9 | GERP -3.2 |
| Overall | ||
| CADD | 0.449 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.97%
African / African-American · 1,481/75,042 alleles
Filtering AF
1.89%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.86%
Overall
0.102%
1,647/1,613,610 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.97% | 51 |
| Remaining individualsnot grpmax-eligible | 0.117% | 856 |
| Admixed American | 0.108% | 922 |
| Middle Eastern | 0.0331% | 3,025 |
| South Asian | 0.0044% | 22,735 |
| East Asian | 0.00223% | 44,878 |
| European (non-Finnish) | 0.00178% | 56,182 |
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.Arg1231=
- Coding
- c.3693C>T
- MANE Select
- NM_194302
- dbSNP
- rs57772693
- Type
- single nucleotide variant
- Location
- chr2:219013954 (GRCh38)
- Gene constraint
- LOEUF 0.85 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 71.03
- Residue 1231
- a UniProt-annotated variant site (in spgf40)
Similar variants
- CFAP65 p.Arg1545Gln Benign ★★ same type
- CFAP65 p.Arg760Gln Benign ★★ same type
- CFAP65 p.Asp1313= Likely benign ★★ same type
- CFAP65 p.Leu1127= Benign/Likely benign ★★ same type
- CFAP65 p.Leu1523= Benign/Likely benign ★★ same type
- CFAP65 p.Leu1906= Benign/Likely benign ★★ same type
- CFAP65 p.Lys1805= Likely benign ★★ same type
- CFAP65 p.Pro1921= 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/cfap65-p-arg1231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown