DNAAF2 p.Val626=
c.1878C>T · VCV4722867
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,586,410)
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 1.4 | GERP -0.009, phastCons 1 |
| Overall | ||
| CADD | 5.405 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,586,410). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DNAAF2
- Protein
- p.Val626=
- Coding
- c.1878C>T
- MANE Select
- NM_018139
- Type
- single nucleotide variant
- Location
- chr14:49628141 (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.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
- DNAAF2 p.Ala358Thr 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-val626 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown