DOCK11 p.Pro2044=
c.6132C>T · rs750628062 · VCV2661271
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.125%, sas)
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 -0.45 | GERP -2.6, phastCons 0.035 |
| Overall | ||
| CADD | 5.833 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.125%
South Asian · 71/56,677 alleles
Filtering AF
0.102%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0933%
Overall
0.00662%
80/1,208,980 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.125% | 798 |
| Middle Eastern | 0.092% | 1,087 |
| European (non-Finnish) | 0.000559% | 178,898 |
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.Pro2044=
- Coding
- c.6132C>T
- MANE Select
- NM_144658
- dbSNP
- rs750628062
- Type
- single nucleotide variant
- Location
- chrX:118685717 (GRCh38)
- Structure
- AlphaFold pLDDT 79.65
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-pro2044 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown