DOCK11 p.Val166=
c.498G>C · rs61740837 · VCV790798
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.45%, 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 4.2 | GERP -0.99, phastCons 1 |
| Overall | ||
| CADD | 9.862 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.45%
African / African-American · 1,384/56,536 alleles
Filtering AF
2.34%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.3%
Overall
0.129%
1,560/1,205,340 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.45% | 41 |
| Admixed American | 0.183% | 547 |
| Remaining individualsnot grpmax-eligible | 0.171% | 586 |
| Middle Eastern | 0.117% | 854 |
| South Asian | 0.00355% | 28,187 |
| European (non-Finnish) | 0.00056% | 178,569 |
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
- DOCK11
- Protein
- p.Val166=
- Coding
- c.498G>C
- MANE Select
- NM_144658
- dbSNP
- rs61740837
- Type
- single nucleotide variant
- Location
- chrX:118546056 (GRCh38)
- Structure
- AlphaFold pLDDT 79.65
- Residue 166
- the ph domain
Similar variants
- DOCK11 p.Ala1222Val Uncertain significance ★★ ⚠ same type
- DOCK11 p.Ala1665Val Uncertain significance ★★ ⚠ same type
- DOCK11 p.Leu781His Uncertain significance ★★ ⚠ same type
- DOCK11 p.Gln866Arg Benign ★★ same type
- DOCK11 p.Ser842Leu Likely benign ★★ same type
- DOCK11 c.1718+5G>A Pathogenic ★ same type
- DOCK11 c.392+1G>A Likely pathogenic ★ same type
- DOCK11 c.4582-1G>A 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/dock11-p-val166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown