DAGLA p.Phe157=
c.471C>T · rs114103951 · VCV783596
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.7%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.45 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.1 | GERP -3.5 |
| Overall | ||
| CADD | 8.947 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.7%
African / African-American · 2,028/75,022 alleles
Filtering AF
2.61%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.57%
Overall
0.15%
2,415/1,614,126 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.7% | 37 |
| Admixed American | 0.247% | 406 |
| Remaining individualsnot grpmax-eligible | 0.213% | 470 |
| Middle Eastern | 0.0165% | 6,062 |
| European (non-Finnish) | 0.00856% | 11,683 |
| East Asian | 0.00446% | 22,445 |
| South Asian | 0.0022% | 45,540 |
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.Phe157=
- Coding
- c.471C>T
- MANE Select
- NM_006133
- dbSNP
- rs114103951
- Type
- single nucleotide variant
- Location
- chr11:61723495 (GRCh38)
- Gene constraint
- LOEUF 0.305 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87
Similar variants
- DAGLA p.Ile823Thr Uncertain significance ★★ ⚠ same type
- DAGLA p.Ala767= Benign ★★ same type
- DAGLA p.Gly735Val Benign ★★ same type
- DAGLA p.Leu988Val Benign ★★ same type
- DAGLA p.Phe335= Benign ★★ same type
- DAGLA p.Val117Ile Likely benign ★★ same type
- DAGLA p.Gln851Ter Likely pathogenic ★ same type
- DAGLA c.1514+1G>A 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/dagla-p-phe157 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown