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 -0.84 | GERP -3.2, phastCons 0.011 |
| Overall | ||
| CADD | 0.872 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Amishnot grpmax-eligible | 92.4% | 1 |
| South Asiangrpmax | 92.2% | 1 |
| European (non-Finnish) | 91.3% | 1 |
| Finnishnot grpmax-eligible | 89.7% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 89% | 1 |
| Middle Eastern | 86.9% | 1 |
| Remaining individualsnot grpmax-eligible | 84.6% | 1 |
| Admixed American | 78.1% | 1 |
| East Asian | 68.8% | 1 |
| African / African-American | 29.8% | 3 |
Amish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- DNAH7
- Protein
- p.Thr384=
- Coding
- c.1152G>A
- MANE Select
- NM_018897
- dbSNP
- rs6434811
- Type
- single nucleotide variant
- Location
- chr2:196001696 (GRCh38)
- Gene constraint
- LOEUF 0.961 · pLI <0.01 (gnomAD)
- Residue 384
- the 'stem' region
Similar variants
- DNAH7 p.Arg1884Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Arg3272Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asn2116Ser Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1219Gly Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1787Gly Uncertain significance ★★ same type
- DNAH7 p.Asp2867Tyr Uncertain significance ★★ ⚠ same type
- DNAH7 p.Ile1203Met Uncertain significance ★★ ⚠ same type
- DNAH7 p.Leu1715Met 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/dnah7-p-thr384 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown