DNAH9 p.Arg995fs
c.2984del · rs771595064 · VCV1065498
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 17 of 69 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.1 | GERP -3.8, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- DNAH9
- Protein
- p.Arg995fs
- Coding
- c.2984del
- MANE Select
- NM_001372
- dbSNP
- rs771595064
- Type
- Deletion
- Location
- chr17:11669425 (GRCh38)
- Gene constraint
- LOEUF 0.775 · pLI <0.01 (gnomAD)
- Residue 995
- the 'stem' region; a UniProt-annotated variant site (in cild40)
Similar variants
- DNAH9 c.3354-1del Likely pathogenic ★★ same type
- DNAH9 p.Asn780fs Pathogenic/Likely pathogenic ★★ same type
- DNAH9 p.Asp3732fs Pathogenic/Likely pathogenic ★★ same type
- DNAH9 p.Glu2765fs Pathogenic/Likely pathogenic ★★ same type
- DNAH9 p.Leu578fs Pathogenic/Likely pathogenic ★★ same type
- DNAH9 p.Phe103fs Pathogenic/Likely pathogenic ★★ same type
- DNAH9 p.Phe254fs Pathogenic/Likely pathogenic ★★ same type
- DNAH9 p.Pro2957fs 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/dnah9-p-arg995fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown