CFAP251 p.Asp511=
c.1533T>C · rs576781184 · VCV3042607
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.595%, sas)
Conditions
1
CFAP251-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.55 | donor gain, 2 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2 | GERP -3.6 |
| Overall | ||
| CADD | 1.946 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.595%
South Asian · 528/88,678 alleles
Filtering AF
0.553%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.537%
Overall
0.0346%
554/1,601,764 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.595% | 168 |
| Remaining individualsnot grpmax-eligible | 0.0371% | 2,699 |
| Middle Eastern | 0.0341% | 2,936 |
| European (non-Finnish) | 8.52e-05% | 1,174,064 |
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.Asp511=
- Coding
- c.1533T>C
- MANE Select
- NM_144668
- dbSNP
- rs576781184
- Type
- single nucleotide variant
- Location
- chr12:121954332 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.84 · 1 PDB
- Residue 511
- 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.Glu207= Likely benign same condition
- CFAP251 p.Gly649= Likely benign same condition
- CFAP251 p.His356= Benign same condition
- CFAP251 p.His740= Likely 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-asp511 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown