DNAAF1 p.Pro366=
c.1098C>G · rs1014231886 · VCV1791197
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
primary ciliary dyskinesia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.6 | GERP -3 |
| Overall | ||
| CADD | 0.038 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DNAAF1
- Protein
- p.Pro366=
- Coding
- c.1098C>G
- MANE Select
- NM_178452
- dbSNP
- rs1014231886
- Type
- single nucleotide variant
- Location
- chr16:84169926 (GRCh38)
- Gene constraint
- LOEUF 1.135 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 61.56
- Residue 366
- the 'disordered' region
Disease context
primary ciliary dyskinesia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary ciliary dyskinesia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Neonatal
- Prevalence
- 1-5 / 10 000 (Pakistan)
Similar variants
- DNAAF1 p.Pro366Ser Uncertain significance ★★ ⚠ same residue
- DNAAF1 p.Arg636Ter Pathogenic ★★ same condition
- DNAAF1 p.Gln260Ter Pathogenic ★★ same condition
- DNAAF1 p.Gln329Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAAF1 p.Gln64Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAAF1 p.Leu232Val Likely pathogenic ★★ ⚠ same condition
- DNAAF1 p.Lys626Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAAF1 p.Tyr264Ter Pathogenic ★★ 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/dnaaf1-p-pro366 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown