CFAP251 p.Gln706=
c.2118G>A · rs747033080 · VCV1176970
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.191%, sas)
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 0.28 | GERP -0.88, phastCons 0.93 |
| Overall | ||
| CADD | 4.737 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.191%
South Asian · 168/87,838 alleles
Filtering AF
0.168%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.159%
Overall
0.0121%
194/1,598,538 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.191% | 523 |
| Remaining individualsnot grpmax-eligible | 0.0227% | 4,412 |
| African / African-American | 0.00271% | 36,965 |
| Admixed American | 0.00182% | 55,066 |
| European (non-Finnish) | 0.000765% | 130,639 |
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.Gln706=
- Coding
- c.2118G>A
- MANE Select
- NM_144668
- dbSNP
- rs747033080
- Type
- single nucleotide variant
- Location
- chr12:121959079 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.84 · 1 PDB
- Residue 706
- a UniProt-annotated variant site (in spgf33)
Similar variants
- CFAP251 p.Arg267Ter Pathogenic ★★ same type
- CFAP251 p.Glu111Ter Pathogenic/Likely pathogenic ★★ same type
- CFAP251 c.-20-20T>C Benign ★★ same type
- CFAP251 p.Arg417Gln Benign ★★ same type
- CFAP251 p.Ile970= Likely benign ★★ same type
- CFAP251 p.Val307Ile Benign ★★ same type
- CFAP251 c.-20-2A>C Likely pathogenic ★ same type
- CFAP251 p.Gln129Ter Likely pathogenic ★ 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/cfap251-p-gln706 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown