DLAT p.Glu141=
c.423G>A · rs781936816 · VCV284159
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0178%, 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 1.2 | GERP -2.4, phastCons 1 |
| Overall | ||
| CADD | 7.647 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0178%
East Asian · 8/44,890 alleles
Filtering AF
0.00883%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00641%
Overall
0.000547%
8/1,461,886 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.Glu141=
- Coding
- c.423G>A
- MANE Select
- NM_001931
- dbSNP
- rs781936816
- Type
- single nucleotide variant
- Location
- chr11:112028556 (GRCh38)
- Gene constraint
- LOEUF 0.759 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.59 · 13 PDB
- Residue 141
- the lipoyl-binding 1 domain; a β-strand
Similar variants
- 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
- DLAT p.Ala191Val 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-glu141 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown