CFAP251 p.His740=
c.2220T>C · rs200131761 · VCV3041415
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.504%, afr)
Conditions
1
CFAP251-related disorder
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 -2.2 | GERP -2.5 |
| Overall | ||
| CADD | 1.926 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.504%
African / African-American · 378/75,048 alleles
Filtering AF
0.462%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.445%
Overall
0.0268%
432/1,614,114 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.504% | 199 |
| Admixed American | 0.04% | 2,501 |
| Remaining individualsnot grpmax-eligible | 0.0256% | 3,906 |
| Middle Eastern | 0.0165% | 6,054 |
| European (non-Finnish) | 0.0011% | 90,767 |
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
- CFAP251
- Protein
- p.His740=
- Coding
- c.2220T>C
- MANE Select
- NM_144668
- dbSNP
- rs200131761
- Type
- single nucleotide variant
- Location
- chr12:121960671 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.84 · 1 PDB
- Residue 740
- a UniProt-annotated variant site (in spgf33)
Disease context
CFAP251-related disorder
Similar variants
- CFAP251 p.Arg267Ter Pathogenic ★★ same condition
- CFAP251 c.2492+10C>G Likely benign same condition
- CFAP251 p.Asn286= Benign same condition
- CFAP251 p.Asp511= Likely benign same condition
- CFAP251 p.Glu207= Likely benign same condition
- CFAP251 p.Gly649= Likely benign same condition
- CFAP251 p.His356= Benign same condition
- CFAP251 p.Leu445Phe Benign same condition
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/cfap251-p-his740 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown