DOCK6 p.Ala571=
c.1713T>C · rs7252937 · VCV1170731
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 43.4%, afr) — too common for a highly-penetrant pathogenic allele
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 -10 | GERP -5 |
| Overall | ||
| CADD | 0.17 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
43.4%
African / African-American · 32,480/74,924 alleles
Filtering AF
43%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 42.8%
Overall
9.39%
151,413/1,613,280 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 43.4% | 2 |
| Remaining individualsnot grpmax-eligible | 10.5% | 10 |
| Ashkenazi Jewishnot grpmax-eligible | 9.14% | 11 |
| Middle Eastern | 8.31% | 12 |
| East Asian | 7.91% | 13 |
| European (non-Finnish) | 7.67% | 13 |
| South Asian | 7.58% | 13 |
| Finnishnot grpmax-eligible | 6.94% | 14 |
| Admixed American | 6.23% | 16 |
| Amishnot grpmax-eligible | 4.4% | 23 |
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
- DOCK6
- Protein
- p.Ala571=
- Coding
- c.1713T>C
- MANE Select
- NM_020812
- dbSNP
- rs7252937
- Type
- single nucleotide variant
- Location
- chr19:11238235 (GRCh38)
- Gene constraint
- LOEUF 0.87 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.78 · 7 PDB
- Residue 571
- the c2 dock-type domain
Similar variants
- DOCK6 c.4491+1G>A Pathogenic ★★ same type
- DOCK6 c.5939+2T>C Pathogenic ★★ same type
- DOCK6 c.807-1G>A Likely pathogenic ★★ same type
- DOCK6 p.Arg1526Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Arg184Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Arg488Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Gln1188Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Glu1494Ter 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/dock6-p-ala571 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown