DNAAF2 p.Ser591=
c.1773A>G · VCV4750016
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 | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.87 | GERP -1.8 |
| Overall | ||
| CADD | 7.72 | 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
- DNAAF2
- Protein
- p.Ser591=
- Coding
- c.1773A>G
- MANE Select
- NM_018139
- Type
- single nucleotide variant
- Location
- chr14:49633377 (GRCh38)
- Gene constraint
- LOEUF 1.811 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.57
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
- DNAAF2 p.Ser591Leu Uncertain significance ★ ⚠ same residue
- DNAAF2 p.Gln504Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAAF2 p.Gln529Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAAF2 p.Glu130Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAAF2 p.Glu243Ter Likely pathogenic ★★ same condition
- DNAAF2 p.Ala100Gly Uncertain significance ★★ ⚠ same condition
- DNAAF2 p.Ala126Val Uncertain significance ★★ ⚠ same condition
- DNAAF2 p.Ala211Thr Uncertain significance ★★ ⚠ 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/dnaaf2-p-ser591 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown