DOCK9 p.Leu1435=
c.4305G>A · rs182624352 · VCV730136
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.125%, afr)
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 3.3 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 7.021 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.125%
African / African-American · 94/74,936 alleles
Filtering AF
0.105%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0972%
Overall
0.00683%
110/1,611,330 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.125% | 797 |
| Admixed American | 0.0183% | 5,452 |
| Remaining individualsnot grpmax-eligible | 0.00641% | 15,598 |
| European (non-Finnish) | 8.49e-05% | 1,177,831 |
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
- DOCK9
- Protein
- p.Leu1435=
- Coding
- c.4305G>A
- MANE Select
- NM_001366683
- dbSNP
- rs182624352
- Type
- single nucleotide variant
- Location
- chr13:98837503 (GRCh38)
- Gene constraint
- LOEUF 0.425 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 79.68 · 4 PDB
Similar variants
- DOCK9 p.Ala434Val Benign ★★ same type
- DOCK9 p.Asn1709= Benign ★★ same type
- DOCK9 p.Cys2012= Benign/Likely benign ★★ same type
- DOCK9 c.5023+908C>T Uncertain significance ★ ⚠ same type
- DOCK9 c.5023+919C>T Uncertain significance ★ ⚠ same type
- DOCK9 c.5023+952C>T Uncertain significance ★ ⚠ same type
- DOCK9 c.5367+706T>A Uncertain significance ★ ⚠ same type
- DOCK9 p.Ala100Ser 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/dock9-p-leu1435 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown