DOCK5 p.Phe1308=
c.3924C>T · rs144747554 · VCV741564
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00533%, 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 -0.17 | GERP -3.9, phastCons 0.68 |
| Overall | ||
| CADD | 12.47 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00533%
African / African-American · 4/75,016 alleles
Filtering AF
0.00174%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00149%
Overall
0.00236%
38/1,613,088 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00533% | 18,754 |
| South Asian | 0.0033% | 30,340 |
| European (non-Finnish) | 0.00246% | 40,670 |
| East Asian | 0.00223% | 44,844 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,436 |
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
- DOCK5
- Protein
- p.Phe1308=
- Coding
- c.3924C>T
- MANE Select
- NM_024940
- dbSNP
- rs144747554
- Type
- single nucleotide variant
- Location
- chr8:25377412 (GRCh38)
- Gene constraint
- LOEUF 0.679 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.63 · 11 PDB
- Residue 1308
- the docker domain
Similar variants
- DOCK5 c.4788+9C>T Benign ★★ same type
- DOCK5 p.Leu986Phe Benign/Likely benign ★★ same type
- DOCK5 p.Met987Leu Benign ★★ same type
- DOCK5 p.Pro1467= Benign ★★ same type
- DOCK5 p.Ser1306= Benign ★★ same type
- DOCK5 p.Thr469Met Benign/Likely benign ★★ ⚠ same type
- DOCK5 p.Ala1067Val Uncertain significance ★ ⚠ same type
- DOCK5 p.Ala1194Ser 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/dock5-p-phe1308 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown