CFAP251 p.Ile970=
c.2910C>T · rs180698776 · VCV1879245
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.194%, nfe)
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 -1.9 | GERP -3 |
| Overall | ||
| CADD | 5.419 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.194%
European (non-Finnish) · 2,280/1,178,210 alleles
Filtering AF
0.187%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.184%
Overall
0.158%
2,534/1,606,596 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.194% | 517 |
| Admixed American | 0.155% | 645 |
| Remaining individualsnot grpmax-eligible | 0.132% | 759 |
| Finnishnot grpmax-eligible | 0.0453% | 2,205 |
| African / African-American | 0.0403% | 2,483 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0374% | 2,674 |
| Middle Eastern | 0.0331% | 3,018 |
| East Asian | 0.0111% | 8,969 |
| South Asian | 0.00673% | 14,849 |
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.Ile970=
- Coding
- c.2910C>T
- MANE Select
- NM_144668
- dbSNP
- rs180698776
- Type
- single nucleotide variant
- Location
- chr12:121975589 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.84 · 1 PDB
- Residue 970
- a UniProt-annotated variant site (in spgf33)
Similar variants
- CFAP251 p.Ile970Val Uncertain significance ★ ⚠ same residue
- 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.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-ile970 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown