DLG4 p.Gln181Arg
c.542A>G · VCV4527881
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.9768 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
2/3 damaging
AlphaMissense, REVEL, SaProt
Computational evidence
| Protein change | ||
| AlphaMissense | 0.9768 | likely pathogenic |
|---|---|---|
| REVEL | 0.259 | benign-leaning |
| SaProt | LLR -13.25 | damaging |
| ⇒ AlphaMissense and SaProt call this damaging; REVEL does not. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.4, phastCons 1 |
| Regional constraint | o/e 0.18 | constrained · MANE · 154 bp · p 1.7e-05 · regional, not allelic |
| Overall | ||
| CADD | 25.7 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DLG4
- Protein
- p.Gln181Arg
- Coding
- c.542A>G
- MANE Select
- NM_001321075
- Type
- single nucleotide variant
- Location
- chr17:7203293 (GRCh38)
- Gene constraint
- LOEUF 0.151 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.00 · 24 PDB
- Residue 181
- the pdz 2 domain
Similar variants
- DLG4 c.1084-1G>T Pathogenic/Likely pathogenic ★★ same type
- DLG4 c.1478+2T>C Pathogenic/Likely pathogenic ★★ same type
- DLG4 c.1543+2T>C Pathogenic/Likely pathogenic ★★ same type
- DLG4 c.1592-1G>A Pathogenic/Likely pathogenic ★★ same type
- DLG4 c.1693+1G>A Pathogenic/Likely pathogenic ★★ same type
- DLG4 c.1866+2T>C Pathogenic/Likely pathogenic ★★ same type
- DLG4 c.210+1G>T Likely pathogenic ★★ same type
- DLG4 c.211-2A>G Pathogenic/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/dlg4-p-gln181arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown