DLAT p.Gln26=
c.78G>A · rs200888235 · VCV797085
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0424%, eas)
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 1.4 | GERP -2.1, phastCons 0.86 |
| Overall | ||
| CADD | 8.665 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0424%
East Asian · 19/44,862 alleles
Filtering AF
0.0277%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.023%
Overall
0.00118%
19/1,613,972 alleles · ultra-rare
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
- DLAT
- Protein
- p.Gln26=
- Coding
- c.78G>A
- MANE Select
- NM_001931
- dbSNP
- rs200888235
- Type
- single nucleotide variant
- Location
- chr11:112025550 (GRCh38)
- Gene constraint
- LOEUF 0.759 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.59 · 13 PDB
Similar variants
- DLAT p.Gln26Glu Uncertain significance ★ ⚠ same residue
- DLAT c.976-1G>A Pathogenic/Likely pathogenic ★★ same type
- DLAT p.Arg435Ter Pathogenic ★★ same type
- DLAT p.Glu138Ter Pathogenic ★★ same type
- DLAT p.Val157Gly Likely pathogenic ★★ same type
- DLAT c.1130-6T>G Uncertain significance ★★ same type
- DLAT p.Ala109Thr Uncertain significance ★★ ⚠ same type
- DLAT p.Ala191Gly 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/dlat-p-gln26 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown