DAGLA p.Ala748=
c.2244G>A · rs765951660 · VCV3052350
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0583%, eas)
Conditions
1
DAGLA-related disorder
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 -0.89 | GERP -2.5 |
| Overall | ||
| CADD | 0.338 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0583%
East Asian · 26/44,568 alleles
Filtering AF
0.0408%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.035%
Overall
0.00267%
42/1,575,280 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0583% | 1,714 |
| Remaining individualsnot grpmax-eligible | 0.00328% | 30,533 |
| South Asian | 0.00231% | 43,246 |
| European (non-Finnish) | 0.00103% | 97,162 |
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
- DAGLA
- Protein
- p.Ala748=
- Coding
- c.2244G>A
- MANE Select
- NM_006133
- dbSNP
- rs765951660
- Type
- single nucleotide variant
- Location
- chr11:61743604 (GRCh38)
- Gene constraint
- LOEUF 0.305 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87
Disease context
DAGLA-related disorder
Similar variants
- DAGLA p.Met286Leu Uncertain significance ⚠ same condition
- DAGLA p.Pro333Leu Uncertain significance ⚠ same condition
- DAGLA c.1657-4G>A Likely benign same condition
- DAGLA c.1983+10C>T Benign same condition
- DAGLA p.Ala508= Benign same condition
- DAGLA p.Ala749Val Likely benign ⚠ same condition
- DAGLA p.Arg82= Likely benign same condition
- DAGLA p.Gly887= Likely benign same condition
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/dagla-p-ala748 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown