DNAH9 p.Pro3994Leu
c.11981_11982inv · VCV1718880
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.3, phastCons 1 |
| Regional constraint | o/e 0.95 | unconstrained · MANE · 333 kb · p 0.00016 · regional, not allelic |
Variant & gene context
- Gene
- DNAH9
- Protein
- p.Pro3994Leu
- Coding
- c.11981_11982inv
- MANE Select
- NM_001372
- Type
- Inversion
- Location
- chr17:11929969 (GRCh38)
- Gene constraint
- LOEUF 0.775 · pLI <0.01 (gnomAD)
- Residue 3994
- a UniProt-annotated variant site (in cild40); a UniProt-annotated variant site (in cild40; loss of localization to cilium axonema); the 'aaa 6' region
Similar variants
- DNAH9 p.Pro3994= Benign ★★ same residue
- DNAH9 p.Gln445Ter Pathogenic ★ same type
- DNAH9 p.Ala1124Thr Uncertain significance ★ same type
- DNAH9 p.Glu616Ser Uncertain significance ★ same type
- DNAH9 p.Thr3618_Leu3619= Uncertain significance ★ 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/dnah9-p-pro3994leu (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown